ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.6282C>T (p.Ile2094=)

gnomAD frequency: 0.00001  dbSNP: rs561011151
Minimum review status: Collection method:
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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 RCV001399767 SCV001601565 likely benign Qualitative or quantitative defects of dysferlin 2024-03-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276875 SCV001463490 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-01-24 no assertion criteria provided clinical testing

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