ClinVar Miner

Submissions for variant NM_000526.5(KRT14):c.369T>C (p.Asn123=)

gnomAD frequency: 0.56333  dbSNP: rs3826549
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253846 SCV000304677 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000056715 SCV001939576 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000056715 SCV002469646 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496746 SCV002810594 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 RCV000056715 SCV005249814 benign not provided criteria provided, single submitter not provided
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056715 SCV000087828 not provided not provided no assertion provided not provided

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