ClinVar Miner

Submissions for variant NM_000526.5(KRT14):c.166C>T (p.Arg56Cys)

gnomAD frequency: 0.00519  dbSNP: rs117484558
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000963160 SCV001110297 benign not provided 2024-01-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489369 SCV002796030 likely 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 2021-10-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000963160 SCV005248086 benign not provided criteria provided, single submitter not provided

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