ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.2184C>T (p.Asp728=)

gnomAD frequency: 0.00142  dbSNP: rs142017323
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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 RCV000908857 SCV001471678 likely benign not provided 2019-12-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002065782 SCV002469961 benign 2-aminoadipic 2-oxoadipic aciduria 2022-11-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003968360 SCV004781944 likely benign DHTKD1-related disorder 2019-08-21 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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