ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.56G>A (p.Arg19His) (rs10774775)

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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 RCV000605966 SCV000733129 benign Methylmalonic aciduria cblB type no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000247935 SCV000331005 benign not specified 2016-08-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000298750 SCV000375749 benign Methylmalonic acidemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351606 SCV000483316 benign Mevalonic aciduria 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389849 SCV000483317 benign Hyperimmunoglobulin D with periodic fever 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000247935 SCV000539820 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 RCV000247935 SCV000315237 benign not specified criteria provided, single submitter clinical testing

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