ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.1617A>G (p.Val539=)

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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 RCV003528865 SCV004365504 likely benign 2-aminoadipic 2-oxoadipic aciduria 2023-12-20 criteria provided, single submitter clinical testing

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