ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.876C>T (p.Ala292=)

gnomAD frequency: 0.00004  dbSNP: rs556079764
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000442 SCV001157261 likely benign not specified 2019-05-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068753 SCV002389360 likely benign 2-aminoadipic 2-oxoadipic aciduria 2024-03-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953416 SCV004769526 likely benign DHTKD1-related disorder 2019-07-10 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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