ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.987+10G>C

gnomAD frequency: 0.00643  dbSNP: rs142511121
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000974732 SCV001122582 benign 2-aminoadipic 2-oxoadipic aciduria 2025-01-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811553 SCV001159401 benign not provided 2024-11-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001811553 SCV005323824 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003983808 SCV004799828 benign DHTKD1-related disorder 2019-05-02 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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