ClinVar Miner

Submissions for variant NM_005557.4(KRT16):c.746C>T (p.Ala249Val)

gnomAD frequency: 0.00017  dbSNP: rs373296526
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000902519 SCV001046943 likely benign not provided 2024-10-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003912886 SCV004731822 benign KRT16-related disorder 2020-06-29 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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