ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.57C>A (p.Arg19=) (rs10774774)

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Total submissions: 7
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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 RCV000616305 SCV000733128 benign Methylmalonic aciduria cblB type no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000252654 SCV000330974 benign not specified 2016-08-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000399708 SCV000375748 benign Methylmalonic acidemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386273 SCV000483314 benign Hyperimmunoglobulin D with periodic fever 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000294302 SCV000483315 benign Mevalonic aciduria 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000252654 SCV000539819 benign not specified 2016-03-28 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: MAF
PreventionGenetics RCV000252654 SCV000315238 benign not specified criteria provided, single submitter clinical testing

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