ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5052C>T (p.Ile1684=)

gnomAD frequency: 0.00001  dbSNP: rs2094956948
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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
Invitae RCV001499806 SCV001704581 likely benign Qualitative or quantitative defects of dysferlin 2023-10-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832654 SCV002082354 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-05-14 no assertion criteria provided clinical testing

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