ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.627G>A (p.Ser209=)

gnomAD frequency: 0.00004  dbSNP: rs745332525
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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 RCV002213531 SCV002367947 likely benign 2-aminoadipic 2-oxoadipic aciduria 2024-01-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003222386 SCV003916587 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing DHTKD1: BP4, BP7

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