ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.2722C>A (p.His908Asn)

gnomAD frequency: 0.00089  dbSNP: rs140386798
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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 RCV002065512 SCV002364395 likely benign 2-aminoadipic 2-oxoadipic aciduria 2024-01-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705874 SCV005226924 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003975584 SCV004795579 likely benign DHTKD1-related disorder 2022-09-08 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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