ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile) (rs147056383)

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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 RCV000080298 SCV000112193 likely benign not specified 2017-01-18 criteria provided, single submitter clinical testing
Counsyl RCV000669830 SCV000794620 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-10-02 criteria provided, single submitter clinical testing
Invitae RCV001086563 SCV001005736 benign Qualitative or quantitative defects of dysferlin 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000864868 SCV001143822 likely benign not provided 2019-01-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001086563 SCV001298480 uncertain significance Qualitative or quantitative defects of dysferlin 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Department of Neurology, Guangzhou First People’s Hospital,School of Medicine, South China University of Technology RCV000864868 SCV001244912 pathogenic not provided 2019-07-01 no assertion criteria provided reference population

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