ClinVar Miner

Submissions for variant NM_001698.3(AUH):c.844-20T>C

gnomAD frequency: 0.00004  dbSNP: rs769924401
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242846 SCV000308010 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058063 SCV002386849 likely benign 3-methylglutaconic aciduria type 1 2023-06-10 criteria provided, single submitter clinical testing

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