ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.1550C>T (p.Ala517Val)

gnomAD frequency: 0.00076  dbSNP: rs142006153
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514039 SCV000610603 likely benign not provided 2017-03-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084582 SCV001113775 benign 2-aminoadipic 2-oxoadipic aciduria 2024-01-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000514039 SCV001159532 benign not provided 2022-03-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935352 SCV004747413 benign DHTKD1-related disorder 2019-05-10 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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