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: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000974732 SCV001122582 benign 2-aminoadipic 2-oxoadipic aciduria 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811553 SCV001159401 benign not provided 2023-11-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003983808 SCV004799828 benign DHTKD1-related disorder 2019-05-02 criteria provided, single submitter 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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