ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.306G>A (p.Thr102=)

gnomAD frequency: 0.00002  dbSNP: rs775431352
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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 RCV001938394 SCV002197023 likely benign 2-aminoadipic 2-oxoadipic aciduria 2023-10-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003222366 SCV003916586 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing DHTKD1: BP4, BP7

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