ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.825G>A (p.Ala275=)

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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 RCV003529394 SCV004343988 likely benign 2-aminoadipic 2-oxoadipic aciduria 2023-12-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003966522 SCV004781961 likely benign DHTKD1-related disorder 2019-08-20 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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