ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.1078G>A (p.Val360Met)

gnomAD frequency: 0.00006  dbSNP: rs755976465
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000887834 SCV001031422 likely benign 2-aminoadipic 2-oxoadipic aciduria 2023-11-12 criteria provided, single submitter clinical testing
GeneDx RCV003327472 SCV004034881 uncertain significance not provided 2023-03-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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