ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4149G>A (p.Thr1383=)

gnomAD frequency: 0.00001  dbSNP: rs566381009
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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) RCV000732770 SCV000860756 uncertain significance not provided 2018-04-13 criteria provided, single submitter clinical testing
Invitae RCV001089056 SCV001043715 likely benign Qualitative or quantitative defects of dysferlin 2024-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000732770 SCV004154969 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing DYSF: BP4, BP7

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