ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3013G>C (p.Glu1005Gln)

gnomAD frequency: 0.00003  dbSNP: rs763925689
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001215611 SCV001387364 likely benign Qualitative or quantitative defects of dysferlin 2023-12-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833880 SCV002082249 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-11-12 no assertion criteria provided clinical testing

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