ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.288T>C (p.Ile96=) (rs62000414)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082326 SCV000114289 benign not specified 2016-08-16 criteria provided, single submitter clinical testing
GeneDx RCV000082326 SCV000170314 benign not specified 2013-11-26 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.
PreventionGenetics,PreventionGenetics RCV000082326 SCV000315235 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000338611 SCV000375747 likely benign Methylmalonic acidemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262496 SCV000483312 likely benign Hyperimmunoglobulin D with periodic fever 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319952 SCV000483313 likely benign Mevalonic aciduria 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000555922 SCV000641762 benign Vitamin B12-responsive methylmalonic acidemia type cblB 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000555922 SCV001270287 benign Vitamin B12-responsive methylmalonic acidemia type cblB 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.

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