ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1881T>C (p.Asp627=) (rs2303596)

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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000080244 SCV000112139 benign not specified 2015-04-24 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000080244 SCV000269048 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Asp627Asp in exon 20 of DYSF: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 29.0% (2493/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2303596).
PreventionGenetics,PreventionGenetics RCV000080244 SCV000309649 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000302229 SCV000431737 benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357010 SCV000431738 benign Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000080244 SCV000519291 benign not specified 2016-01-05 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.
Athena Diagnostics Inc RCV000711550 SCV000841929 benign not provided 2017-03-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001137671 SCV001297637 benign 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Invitae RCV001137671 SCV001725271 benign Qualitative or quantitative defects of dysferlin 2020-12-04 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001527212 SCV001738158 benign Miyoshi muscular dystrophy 1 2021-06-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001274448 SCV001875862 benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2021-07-30 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001664337 SCV001875863 benign Myopathy, distal, with anterior tibial onset 2021-07-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000080244 SCV000151016 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Natera, Inc. RCV001274448 SCV001458649 benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-09-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000080244 SCV001739991 benign not specified no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000080244 SCV001923590 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000080244 SCV001954558 benign not specified no assertion criteria provided clinical testing

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