ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.*13C>T

gnomAD frequency: 0.05421  dbSNP: rs9510701
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078402 SCV000110248 benign not specified 2013-09-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham 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, part of Exact Sciences RCV000078402 SCV000303087 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000398630 SCV000383262 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2C 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000304530 SCV000383263 likely benign Limb-girdle muscular dystrophy, recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000393997 SCV000483446 likely benign Charlevoix-Saguenay spastic ataxia 2016-06-14 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 Laboratory Services, Illumina RCV001114521 SCV001272414 benign Sarcoglycanopathy 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Breakthrough Genomics, Breakthrough Genomics RCV004704834 SCV005219330 likely benign not provided criteria provided, single submitter not provided

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