ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4792G>A (p.Ala1598Thr)

gnomAD frequency: 0.00030  dbSNP: rs146213322
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559661 SCV000649705 likely benign Qualitative or quantitative defects of dysferlin 2024-01-27 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000732545 SCV000860513 uncertain significance not provided 2018-03-23 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000732545 SCV001477229 uncertain significance not provided 2020-02-18 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000732545 SCV003831312 uncertain significance not provided 2021-01-06 criteria provided, single submitter clinical testing

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