ClinVar Miner

Submissions for variant NM_001698.3(AUH):c.996G>A (p.Arg332=)

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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 RCV002866385 SCV003227078 likely benign 3-methylglutaconic aciduria type 1 2023-10-13 criteria provided, single submitter clinical testing

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