ClinVar Miner

Submissions for variant NM_175053.4(KRT74):c.1515G>T (p.Ala505=)

gnomAD frequency: 0.00225  dbSNP: rs114132371
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000884001 SCV001027351 benign not provided 2023-11-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000884001 SCV005229607 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003910435 SCV004722471 likely benign KRT74-related disorder 2019-04-09 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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