ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.*254G>A

gnomAD frequency: 0.31172  dbSNP: rs3751371
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000394244 SCV000342534 benign not specified 2016-06-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000315861 SCV000383272 benign Autosomal recessive limb-girdle muscular dystrophy type 2C 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000372732 SCV000383273 benign Limb-girdle muscular dystrophy, recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000354144 SCV000483448 likely benign Charlevoix-Saguenay spastic ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001111245 SCV001268784 benign Sarcoglycanopathy 2018-01-12 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.
GeneDx RCV001642891 SCV001858151 benign not provided 2018-06-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001642891 SCV005219333 likely benign not provided criteria provided, single submitter not provided

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