ClinVar Miner

Submissions for variant NM_000231.2(SGCG):c.832G>A (p.Gly278Ser) (rs147820869)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000309697 SCV000339020 likely benign not specified 2016-02-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001094189 SCV000383258 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000399428 SCV000383259 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000309697 SCV000615233 uncertain significance not specified 2016-09-06 criteria provided, single submitter clinical testing
Invitae RCV000338071 SCV000634391 benign Severe autosomal recessive muscular dystrophy of childhood - North African type 2020-12-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV000338071 SCV001453881 likely benign Severe autosomal recessive muscular dystrophy of childhood - North African type 2020-04-19 no assertion criteria provided clinical testing

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