ClinVar Miner

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

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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 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.
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 Methylmalonic aciduria cblB type 2016-12-26 criteria provided, single submitter clinical testing
PreventionGenetics RCV000082326 SCV000315235 benign not specified criteria provided, single submitter clinical testing

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