ClinVar Miner

Submissions for variant NM_000231.2(SGCG):c.705T>C (p.Leu235=) (rs1800353)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710216 SCV000677487 benign not provided 2017-04-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078407 SCV000110253 benign not specified 2013-07-29 criteria provided, single submitter clinical testing
GeneDx RCV000078407 SCV000518062 benign not specified 2016-01-07 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.
Genetic Services Laboratory, University of Chicago RCV000078407 SCV000152728 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000373060 SCV000383256 benign Severe autosomal recessive muscular dystrophy of childhood - North African type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278365 SCV000383257 benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293880 SCV000483444 likely benign Spastic ataxia Charlevoix-Saguenay type 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000078407 SCV000269825 benign not specified 2014-11-26 criteria provided, single submitter clinical testing This is a RefSeq error. The reference base (c.705T) is the minor allele. This allele (T) has been identified in 33% (2878/8600) of European American chromosomes and 60% (2634/4406) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs1800353) and thus meets criteria to be classified as benign.
PreventionGenetics RCV000078407 SCV000303097 benign not specified criteria provided, single submitter clinical testing

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