ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.945A>G (p.Pro315=)

gnomAD frequency: 0.00016  dbSNP: rs144254844
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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 RCV002065781 SCV002452327 likely benign 2-aminoadipic 2-oxoadipic aciduria 2024-01-31 criteria provided, single submitter clinical testing

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