ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.522+11G>T

gnomAD frequency: 0.00001  dbSNP: rs771751313
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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 RCV002104438 SCV002433705 likely benign 2-aminoadipic 2-oxoadipic aciduria 2021-05-31 criteria provided, single submitter clinical testing

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