ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.2742C>T (p.Leu914=)

gnomAD frequency: 0.00041  dbSNP: rs201680688
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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 RCV001083620 SCV001096237 benign 2-aminoadipic 2-oxoadipic aciduria 2024-12-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000949960 SCV001147823 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing DHTKD1: BP4
PreventionGenetics, part of Exact Sciences RCV003960607 SCV004774817 likely benign DHTKD1-related disorder 2020-01-22 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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