ClinVar Miner

Submissions for variant NM_001698.3(AUH):c.864G>A (p.Val288=)

gnomAD frequency: 0.00001  dbSNP: rs199569104
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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 RCV001460892 SCV001664774 likely benign 3-methylglutaconic aciduria type 1 2021-04-16 criteria provided, single submitter clinical testing

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