ClinVar Miner

Submissions for variant NM_005554.4(KRT6A):c.62A>G (p.Asn21Ser)

gnomAD frequency: 0.29042  dbSNP: rs17845411
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001731069 SCV001981166 benign Pachyonychia congenita 3 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707696 SCV005229543 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003984086 SCV004796278 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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