ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.2154+19G>A

gnomAD frequency: 0.00011  dbSNP: rs375269543
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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 RCV001999406 SCV002279270 likely benign 2-aminoadipic 2-oxoadipic aciduria 2023-04-14 criteria provided, single submitter clinical testing

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