ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1577-1699C>T

gnomAD frequency: 0.00009  dbSNP: rs183489578
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000349882 SCV000336980 uncertain significance not provided 2015-11-03 criteria provided, single submitter clinical testing
Invitae RCV001087804 SCV001015780 likely benign Qualitative or quantitative defects of dysferlin 2024-01-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276728 SCV001463256 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-10-28 no assertion criteria provided clinical testing

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