ClinVar Miner

Submissions for variant NM_000494.4(COL17A1):c.2595C>T (p.Arg865=)

gnomAD frequency: 0.71960  dbSNP: rs4918079
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246830 SCV000304518 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000276483 SCV000360234 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 RCV000276483 SCV001821772 benign Junctional epidermolysis bullosa, non-Herlitz type 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001589238 SCV001821773 benign Epithelial recurrent erosion dystrophy 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001711539 SCV001939469 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24668667)
Labcorp Genetics (formerly Invitae), Labcorp RCV001711539 SCV002356657 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711539 SCV005322467 benign not provided criteria provided, single submitter not provided

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