ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5885-16T>C

gnomAD frequency: 0.91575  dbSNP: rs1863812
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080313 SCV000112208 benign not specified 2015-04-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000080313 SCV000309700 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000080313 SCV000518383 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000080313 SCV000539069 benign not specified 2016-04-25 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in ESP (all): 12005/13006=92.3%
Genome-Nilou Lab RCV001527271 SCV001738229 benign Miyoshi muscular dystrophy 1 2021-06-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001664347 SCV001875872 benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001664346 SCV001875873 benign Distal myopathy with anterior tibial onset 2021-07-30 criteria provided, single submitter clinical testing
Invitae RCV002055167 SCV002478432 benign Qualitative or quantitative defects of dysferlin 2024-02-01 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000080313 SCV001926135 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000080313 SCV001963255 benign not specified no assertion criteria provided clinical testing

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