ClinVar Miner

Submissions for variant NM_000231.2(SGCG):c.*13C>T (rs9510701)

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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 RCV000078402 SCV000110248 benign not specified 2013-09-19 criteria provided, single submitter clinical testing
GeneDx RCV000078402 SCV000519707 benign not specified 2016-02-23 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 RCV000398630 SCV000383262 likely 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 RCV000304530 SCV000383263 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393997 SCV000483446 likely benign Spastic ataxia Charlevoix-Saguenay type 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000078402 SCV000269821 benign not specified 2015-01-13 criteria provided, single submitter clinical testing c.*13C>T in exon 8 of SGCG: This variant is not expected to have clinical signif icance because it has been identified in 8.5% (373/4406) of African American chr omosomes from a broad population by the NHLBI Exome Sequencing Project (http://e vs.gs.washington.edu/EVS; dbSNP rs9510701).
PreventionGenetics RCV000078402 SCV000303087 benign not specified criteria provided, single submitter clinical testing

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