ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.2613G>A (p.Pro871=)

gnomAD frequency: 0.00009  dbSNP: rs139445220
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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 RCV001869322 SCV002270640 likely benign 2-aminoadipic 2-oxoadipic aciduria 2021-10-28 criteria provided, single submitter clinical testing

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