ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.2048-32_2048-10del

dbSNP: rs1368208385
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002167524 SCV002340580 likely benign 2-aminoadipic 2-oxoadipic aciduria 2024-01-03 criteria provided, single submitter clinical testing

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