ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2855C>T (p.Pro952Leu)

gnomAD frequency: 0.00014  dbSNP: rs150717638
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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) RCV000380360 SCV000345313 uncertain significance not provided 2018-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001246606 SCV001419971 likely benign Qualitative or quantitative defects of dysferlin 2024-12-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000380360 SCV001713176 uncertain significance not provided 2020-11-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480056 SCV002777882 uncertain significance Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2022-04-21 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000380360 SCV003831262 uncertain significance not provided 2021-10-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833413 SCV002082242 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-02-11 no assertion criteria provided clinical testing

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