ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4021C>G (p.Gln1341Glu)

gnomAD frequency: 0.00094  dbSNP: rs147950418
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000658869 SCV000333048 uncertain significance not provided 2015-07-14 criteria provided, single submitter clinical testing
GeneDx RCV000658869 SCV000568714 likely benign not provided 2020-09-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25133958, 29970176)
CeGaT Center for Human Genetics Tuebingen RCV000658869 SCV000780668 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing DYSF: BS1
Labcorp Genetics (formerly Invitae), Labcorp RCV000691904 SCV000819703 likely benign Qualitative or quantitative defects of dysferlin 2024-12-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000691904 SCV001300367 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000658869 SCV001477858 uncertain significance not provided 2020-02-14 criteria provided, single submitter clinical testing
Baylor Genetics RCV001329091 SCV001520409 uncertain significance Miyoshi muscular dystrophy 1 2019-01-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported in patients with ataxia and limb-girdle muscular dystrophy [PMID 25133958, 29970176]
Mayo Clinic Laboratories, Mayo Clinic RCV000658869 SCV002541835 uncertain significance not provided 2023-03-20 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004998380 SCV002770749 likely benign not specified 2024-10-29 criteria provided, single submitter clinical testing

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