ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser) (rs138654170)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000176395 SCV000338316 uncertain significance not provided 2015-12-30 criteria provided, single submitter clinical testing
Invitae RCV001085145 SCV000649626 likely benign Qualitative or quantitative defects of dysferlin 2019-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765697 SCV000897039 uncertain significance Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Myopathy, distal, with anterior tibial onset 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001085145 SCV001300946 uncertain significance Qualitative or quantitative defects of dysferlin 2018-03-23 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.
Natera, Inc. RCV001271790 SCV001453230 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-01-03 no assertion criteria provided clinical testing

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