ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.*107T>A

gnomAD frequency: 0.00707  dbSNP: rs11903223
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000351649 SCV000344677 likely benign not specified 2016-08-17 criteria provided, single submitter clinical testing
Mendelics RCV000986771 SCV001135892 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-05-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001138535 SCV001298596 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.
Invitae RCV001138535 SCV001695027 likely benign Qualitative or quantitative defects of dysferlin 2023-09-08 criteria provided, single submitter clinical testing
GeneDx RCV001723875 SCV001950980 benign not provided 2020-10-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22057634, 16705711, 22367358)

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