ClinVar Miner

Submissions for variant NM_000424.4(KRT5):c.732G>A (p.Leu244=)

dbSNP: rs1132948
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249826 SCV000304101 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000370569 SCV000379961 benign Epidermolysis bullosa simplex 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.
GeneDx RCV000056642 SCV001939595 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Invitae RCV000056642 SCV002356558 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056642 SCV000087755 not provided not provided no assertion provided not provided

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