ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5884+6C>T

gnomAD frequency: 0.00011  dbSNP: rs144355449
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000874414 SCV001016587 likely benign Qualitative or quantitative defects of dysferlin 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000874414 SCV001303336 uncertain significance Qualitative or quantitative defects of dysferlin 2017-08-05 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV001564800 SCV001788018 likely benign not provided 2019-08-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25312915, 25591676)
Natera, Inc. RCV001830918 SCV002080338 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-07-29 no assertion criteria provided clinical testing

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