ClinVar Miner

Submissions for variant NM_001698.3(AUH):c.262+14G>A

gnomAD frequency: 0.00019  dbSNP: rs200386272
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698194 SCV000532380 likely benign not provided 2018-03-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059956 SCV002435389 likely benign 3-methylglutaconic aciduria type 1 2023-10-16 criteria provided, single submitter clinical testing

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