ClinVar Miner

Submissions for variant NM_005554.4(KRT6A):c.495A>G (p.Glu165=)

gnomAD frequency: 0.34829  dbSNP: rs376545
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000947455 SCV001093634 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000947455 SCV001939596 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730740 SCV001981164 benign Pachyonychia congenita 3 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000947455 SCV005213176 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003983291 SCV004796394 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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