ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5235C>T (p.Cys1745=)

gnomAD frequency: 0.00001  dbSNP: rs1573061003
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000980130 SCV001128079 likely benign Qualitative or quantitative defects of dysferlin 2020-07-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832276 SCV002080310 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-02-28 no assertion criteria provided clinical testing

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