ClinVar Miner

Submissions for variant NM_001698.3(AUH):c.768C>T (p.His256=)

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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 RCV003619552 SCV004517032 likely benign 3-methylglutaconic aciduria type 1 2024-11-03 criteria provided, single submitter clinical testing

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