Submissions for variant NM_000210.4(ITGA6):c.2820G>A (p.Pro940=)

gnomAD frequency: 0.00669  dbSNP: rs34599583

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000392772	SCV000419390	benign	Junctional epidermolysis bullosa with pyloric atresia	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000968995	SCV001116482	benign	not provided	2024-10-26	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002487466	SCV002803594	likely benign	Epidermolysis bullosa, junctional 6, with pyloric atresia	2021-07-21	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000968995	SCV005238408	benign	not provided		criteria provided, single submitter	not provided