ClinVar Miner

Submissions for variant NM_005555.4(KRT6B):c.1495G>A (p.Gly499Ser)

gnomAD frequency: 0.02504  dbSNP: rs61746355
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988855 SCV001138747 benign Pachyonychia congenita 4 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067581 SCV002435185 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002067581 SCV005229486 benign not provided criteria provided, single submitter not provided
OMIM RCV000988855 SCV001167326 pathogenic Pachyonychia congenita 4 2020-03-06 no assertion criteria provided literature only

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