ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.1407C>A (p.Gly469=)

gnomAD frequency: 0.00025  dbSNP: rs80324702
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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 RCV002065643 SCV002375404 benign 2-aminoadipic 2-oxoadipic aciduria 2024-01-24 criteria provided, single submitter clinical testing

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