ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.2340A>G (p.Gln780=)

gnomAD frequency: 0.00086  dbSNP: rs149564288
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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 RCV000965131 SCV001112389 likely benign 2-aminoadipic 2-oxoadipic aciduria 2024-01-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707510 SCV005226923 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003960763 SCV004770311 likely benign DHTKD1-related disorder 2023-02-24 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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