ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.1581C>T (p.Pro527=)

gnomAD frequency: 0.00001  dbSNP: rs1588612349
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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 RCV000929902 SCV001075540 likely benign 2-aminoadipic 2-oxoadipic aciduria 2019-12-31 criteria provided, single submitter clinical testing

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