ClinVar Miner

Submissions for variant NM_000526.5(KRT14):c.189C>T (p.Cys63=)

gnomAD frequency: 0.56357  dbSNP: rs11551758
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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 RCV000244483 SCV000304672 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000056697 SCV001859785 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490638 SCV002803141 benign Epidermolysis bullosa simplex 1A, generalized severe; Dermatopathia pigmentosa reticularis; Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive; Epidermolysis bullosa simplex, Koebner type; Epidermolysis bullosa simplex 1C, localized; Naegeli-Franceschetti-Jadassohn syndrome 2021-08-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000056697 SCV005248082 benign not provided criteria provided, single submitter not provided
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056697 SCV000087810 not provided not provided no assertion provided not provided

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