ClinVar Miner

Submissions for variant NM_001698.3(AUH):c.657G>A (p.Gly219=)

gnomAD frequency: 0.00003  dbSNP: rs141110052
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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 RCV000635282 SCV000756678 likely benign 3-methylglutaconic aciduria type 1 2023-11-27 criteria provided, single submitter clinical testing

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