ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.453G>A (p.Gln151=) (rs11545261)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000607888 SCV000734151 benign Methylmalonic acidemia with homocystinuria cblD no assertion criteria provided clinical testing
GeneDx RCV000186036 SCV000239000 benign not specified 2014-07-07 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 RCV000344994 SCV000416764 benign Methylmalonic acidemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000401734 SCV000416765 benign Disorders of Intracellular Cobalamin Metabolism 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000186036 SCV000539654 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 87% of total chromosomes in ExAC
PreventionGenetics RCV000186036 SCV000312593 benign not specified criteria provided, single submitter clinical testing

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