Completed Digestion, Kidneys & Other Organs NIHR-supported project Genetics & Molecular Biology

Identification of Variants of Uncertain Significance (VUS) data in COL3A1 causing vEDS, by extraction of diagnostic laboratory data from the Sheffield Diagnostic Genetics Service and reclassification according to the ACMG criteria.

Funder NIHR (part of DHSC)
Recipient organisation NIHR Great Ormond Street Biomedical Research Centre
NIHR support Recorded as supported by this research centre
Period Mar 2025 — Mar 2025

About this grant

This summary is based on the grant title only — the full abstract was not available.

No substantive source abstract was published for this research project funded by NIHR.

Researchers

Meena Balasubramanian (Principal Investigator)

Related Research

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GOSH BRC Project: Identification of Variants of Uncertain Significance (VUS) data in COL3A1 causing vEDS, by extraction of diagnostic laboratory data from the Sheffield Diagnostic Genetics Service and reclassification according to the ACMG criteria.
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Original classification

Applied Child Health Informatics

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