ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5174+8G>A

dbSNP: rs1573054048
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001457432 SCV001661235 likely benign Qualitative or quantitative defects of dysferlin 2021-10-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003897991 SCV004710019 likely benign DYSF-related condition 2021-10-13 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. RCV001827112 SCV002082361 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-12-21 no assertion criteria provided clinical testing

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