ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.33G>A (p.Arg11=)

gnomAD frequency: 0.00025  dbSNP: rs199768968
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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 RCV000892590 SCV001036474 likely benign 2-aminoadipic 2-oxoadipic aciduria 2024-01-17 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001701238 SCV001473097 likely benign not provided 2020-03-13 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001701238 SCV001917930 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701238 SCV001927617 likely benign not provided no assertion criteria provided clinical testing

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