Submissions for variant NM_000494.4(COL17A1):c.3261T>C (p.Ile1087=)

gnomAD frequency: 0.98672  dbSNP: rs2476958

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000252056	SCV000304522	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000288544	SCV000360220	benign	Junctional epidermolysis bullosa, non-Herlitz type	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.
Genome-Nilou Lab	RCV000288544	SCV001821763	benign	Junctional epidermolysis bullosa, non-Herlitz type	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001582810	SCV001821764	benign	Epithelial recurrent erosion dystrophy	2021-07-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001711542	SCV001939476	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Invitae	RCV001711542	SCV002409647	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing