ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4982C>T (p.Thr1661Met)

dbSNP: rs144383140
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000348647 SCV000344694 uncertain significance not provided 2016-08-09 criteria provided, single submitter clinical testing
Invitae RCV001240482 SCV001413428 likely benign Qualitative or quantitative defects of dysferlin 2023-11-15 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000348647 SCV001713187 uncertain significance not provided 2020-02-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494891 SCV002790171 uncertain significance Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2021-12-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000348647 SCV003830861 uncertain significance not provided 2019-04-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833403 SCV002082350 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-10-28 no assertion criteria provided clinical testing

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