ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.661C>G (p.Leu221Val)

gnomAD frequency: 0.02232  dbSNP: rs13407355
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080309 SCV000112204 benign not specified 2012-10-11 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000080309 SCV000309696 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000316737 SCV000431680 likely benign Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000373692 SCV000431681 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000080309 SCV000521195 benign not specified 2016-05-04 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.
Invitae RCV000546064 SCV000649724 benign Qualitative or quantitative defects of dysferlin 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000546064 SCV001300717 likely 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Athena Diagnostics Inc RCV000080309 SCV001879882 benign not specified 2021-04-30 criteria provided, single submitter clinical testing
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV001273966 SCV001984273 benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-12-12 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000080309 SCV002050938 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000080309 SCV000151035 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. RCV001273966 SCV001457602 benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-09-16 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000080309 SCV002033821 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001795107 SCV002036024 likely benign not provided no assertion criteria provided clinical testing

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