ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.1978-8del

dbSNP: rs747001867
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001504460 SCV001709337 likely benign 3-methylcrotonyl-CoA carboxylase 1 deficiency 2023-11-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003956117 SCV004774475 likely benign MCCC1-related disorder 2019-07-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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