ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3403-10G>A

gnomAD frequency: 0.00168  dbSNP: rs116733194
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249764 SCV000309671 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725483 SCV000337234 uncertain significance not provided 2018-03-01 criteria provided, single submitter clinical testing
Invitae RCV001082993 SCV000649659 benign Qualitative or quantitative defects of dysferlin 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000725483 SCV000725425 likely benign not provided 2020-03-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25312915)
Illumina Laboratory Services, Illumina RCV001082993 SCV001301080 likely benign 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Natera, Inc. RCV001272830 SCV001455221 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-01-07 no assertion criteria provided clinical testing

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