ClinVar Miner

Submissions for variant NM_001698.3(AUH):c.263-11C>T

gnomAD frequency: 0.00002  dbSNP: rs759369259
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426635 SCV000527201 likely benign not specified 2016-11-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002059593 SCV002444909 likely benign 3-methylglutaconic aciduria type 1 2023-10-15 criteria provided, single submitter clinical testing

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