ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.2050-6_2050-5del

dbSNP: rs780558586
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000301936 SCV000442285 uncertain significance Methylcrotonyl-CoA carboxylase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003600374 SCV004510587 likely benign 3-methylcrotonyl-CoA carboxylase 1 deficiency 2022-11-07 criteria provided, single submitter clinical testing

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