ClinVar Miner

Submissions for variant NM_005554.4(KRT6A):c.1449A>G (p.Gln483=)

gnomAD frequency: 0.00011  dbSNP: rs372218481
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001310992 SCV001501000 likely benign not provided 2020-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001310992 SCV004461796 likely benign not provided 2022-10-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938617 SCV004752333 likely benign KRT6A-related disorder 2019-06-25 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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