Submissions for variant NM_000094.4(COL7A1):c.2367C>T (p.Ser789=)

gnomAD frequency: 0.00121  dbSNP: rs139521707

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000894598	SCV001038593	likely benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001149284	SCV001310228	uncertain significance	Epidermolysis bullosa dystrophica	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
CeGaT Center for Human Genetics Tuebingen	RCV000894598	SCV004154490	likely benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	COL7A1: BP4, BP7
Natera, Inc.	RCV001273595	SCV001456753	likely benign	Generalized dominant dystrophic epidermolysis bullosa	2020-06-05	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529169	SCV001742191	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000894598	SCV001808223	likely benign	not provided		no assertion criteria provided	clinical testing