ClinVar Miner

Submissions for variant NM_005554.4(KRT6A):c.483T>C (p.Ala161=)

gnomAD frequency: 0.46623  dbSNP: rs711317
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001617220 SCV001846561 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730877 SCV001981165 benign Pachyonychia congenita 3 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001617220 SCV005229542 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003980803 SCV004799633 benign KRT6A-related disorder 2019-09-24 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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