ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.1262A>G (p.Lys421Arg)

gnomAD frequency: 0.00084  dbSNP: rs34033944
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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 RCV001858579 SCV002204436 likely benign 2-aminoadipic 2-oxoadipic aciduria 2021-12-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942826 SCV004770016 likely benign DHTKD1-related disorder 2023-08-28 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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