ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.2454A>G (p.Lys818=)

gnomAD frequency: 0.00006  dbSNP: rs544154603
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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 RCV000808187 SCV000948283 likely benign 2-aminoadipic 2-oxoadipic aciduria 2024-01-18 criteria provided, single submitter clinical testing

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