ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5058C>A (p.Leu1686=)

gnomAD frequency: 0.00168  dbSNP: rs141476432
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000299980 SCV000339226 likely benign not specified 2017-04-05 criteria provided, single submitter clinical testing
GeneDx RCV000711565 SCV000525509 likely benign not provided 2019-03-19 criteria provided, single submitter clinical testing
Invitae RCV001084840 SCV000649712 benign Qualitative or quantitative defects of dysferlin 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711565 SCV000841944 benign not provided 2017-12-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000711565 SCV004154975 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing DYSF: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003947912 SCV004765158 likely benign DYSF-related condition 2019-11-15 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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