ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.1772G>A (p.Ser591Asn) (rs569721834)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000249040 SCV000313455 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000653489 SCV000775368 likely benign 3 Methylcrotonyl-CoA carboxylase 1 deficiency 2020-11-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000653489 SCV001309572 likely benign 3 Methylcrotonyl-CoA carboxylase 1 deficiency 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.

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