ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.369T>C (p.Asn123=)

gnomAD frequency: 0.00084  dbSNP: rs35638771
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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 RCV002065929 SCV002395128 benign 2-aminoadipic 2-oxoadipic aciduria 2021-12-03 criteria provided, single submitter clinical testing

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