Submissions for variant NM_000094.4(COL7A1):c.5259C>T (p.Pro1753=)

gnomAD frequency: 0.00267  dbSNP: rs151261530

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000883707	SCV001027035	benign	not provided	2025-01-19	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001144354	SCV001304947	likely benign	Epidermolysis bullosa dystrophica	2018-01-13	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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
CeGaT Center for Human Genetics Tuebingen	RCV000883707	SCV004154479	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	COL7A1: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV000883707	SCV005261346	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001144354	SCV001454710	uncertain significance	Epidermolysis bullosa dystrophica	2020-01-17	no assertion criteria provided	clinical testing