ClinVar Miner

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

gnomAD frequency: 0.06776  dbSNP: rs2270969
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 3
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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
Breakthrough Genomics, Breakthrough Genomics RCV004715802 SCV005302557 benign not provided criteria provided, single submitter not provided

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