ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4831G>A (p.Ala1611Thr)

gnomAD frequency: 0.00009  dbSNP: rs143163327
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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) RCV000594913 SCV000707964 uncertain significance not provided 2017-04-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000797230 SCV000936779 likely benign Qualitative or quantitative defects of dysferlin 2024-07-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000594913 SCV005434830 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing DYSF: BP4

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