ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.294A>C (p.Gly98=)

gnomAD frequency: 0.00010  dbSNP: rs199959700
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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 RCV002098608 SCV002397320 likely benign 2-aminoadipic 2-oxoadipic aciduria 2023-01-14 criteria provided, single submitter clinical testing

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