ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3779G>A (p.Arg1260His)

gnomAD frequency: 0.00049  dbSNP: rs2303603
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000517716 SCV000345252 likely benign not specified 2016-12-28 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000710129 SCV000613202 likely benign not provided 2017-12-28 criteria provided, single submitter clinical testing
Invitae RCV001085630 SCV000649669 benign Qualitative or quantitative defects of dysferlin 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000710129 SCV000730761 benign not provided 2019-03-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17512949, 25868377, 32400077)
Counsyl RCV000326858 SCV000800793 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-11-10 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001085630 SCV001297884 uncertain significance Qualitative or quantitative defects of dysferlin 2017-04-28 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.
PreventionGenetics, part of Exact Sciences RCV003957518 SCV004766708 likely benign DYSF-related disorder 2019-08-09 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000326858 SCV001455228 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-05-02 no assertion criteria provided clinical testing

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