ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5841C>T (p.Phe1947=)

gnomAD frequency: 0.00002  dbSNP: rs772521748
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246672 SCV000309699 likely benign not specified criteria provided, single submitter clinical testing
Counsyl RCV000667569 SCV000792046 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-06-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001442771 SCV001645726 likely benign Qualitative or quantitative defects of dysferlin 2024-01-04 criteria provided, single submitter clinical testing

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