ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.1185C>T (p.Ile395=)

gnomAD frequency: 0.00015  dbSNP: rs140878433
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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 RCV002540818 SCV001055949 likely benign 2-aminoadipic 2-oxoadipic aciduria 2023-11-05 criteria provided, single submitter clinical testing

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