ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.1594+39T>C

gnomAD frequency: 0.06776  dbSNP: rs2270969
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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 RCV000253943 SCV000313453 benign not specified criteria provided, single submitter clinical testing
Pars Genome Lab RCV001527497 SCV001738529 benign 3-methylcrotonyl-CoA carboxylase 1 deficiency 2021-06-15 criteria provided, single submitter clinical testing

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