ClinVar Miner

Submissions for variant NM_005554.4(KRT6A):c.819T>C (p.Asp273=)

gnomAD frequency: 0.30252  dbSNP: rs12578949
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001731068 SCV001981163 benign Pachyonychia congenita 3 2021-08-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073960 SCV002493931 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002073960 SCV005229538 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003976121 SCV004793278 benign KRT6A-related disorder 2019-10-18 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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