ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) (rs34749281)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000153462 SCV000202969 benign not specified 2014-01-14 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000153462 SCV000313454 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000554672 SCV000442288 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.
Invitae RCV000554672 SCV000656950 benign 3 Methylcrotonyl-CoA carboxylase 1 deficiency 2020-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000153462 SCV000728694 benign not specified 2017-01-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Nilou-Genome Lab RCV000554672 SCV001712304 benign 3 Methylcrotonyl-CoA carboxylase 1 deficiency 2021-05-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273491 SCV001456578 benign Methylcrotonyl-CoA carboxylase deficiency 2020-09-16 no assertion criteria provided clinical testing

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