ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2706C>T (p.Asn902=)

gnomAD frequency: 0.00001  dbSNP: rs398123775
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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) RCV000080256 SCV000112151 uncertain significance not provided 2013-07-26 criteria provided, single submitter clinical testing
Counsyl RCV000668890 SCV000793564 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-08-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055161 SCV002382675 likely benign Qualitative or quantitative defects of dysferlin 2023-09-28 criteria provided, single submitter clinical testing

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