ClinVar Miner

Submissions for variant NM_001698.3(AUH):c.714C>T (p.Phe238=)

dbSNP: rs1173204062
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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 RCV002122052 SCV002400126 likely benign 3-methylglutaconic aciduria type 1 2023-06-09 criteria provided, single submitter clinical testing

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