ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5458-17G>A

gnomAD frequency: 0.00024  dbSNP: rs147638721
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153186 SCV000202656 uncertain significance not provided 2014-02-07 criteria provided, single submitter clinical testing
Invitae RCV002056031 SCV002485050 likely benign Qualitative or quantitative defects of dysferlin 2023-12-26 criteria provided, single submitter clinical testing

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