ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.1695C>T (p.Asp565=)

gnomAD frequency: 0.00009  dbSNP: rs141111299
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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 RCV002178512 SCV002474610 benign 2-aminoadipic 2-oxoadipic aciduria 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003926282 SCV004743906 likely benign DHTKD1-related disorder 2019-09-13 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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