ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.246G>A (p.Leu82=)

gnomAD frequency: 0.00001  dbSNP: rs756463088
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178192 SCV000230209 uncertain significance not provided 2016-06-20 criteria provided, single submitter clinical testing
Invitae RCV000810796 SCV000951030 likely benign Qualitative or quantitative defects of dysferlin 2024-01-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832021 SCV002079740 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-10-28 no assertion criteria provided clinical testing

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