ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1498C>T (p.Arg500Cys)

gnomAD frequency: 0.00053  dbSNP: rs185119682
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000335981 SCV000338995 uncertain significance not provided 2016-01-22 criteria provided, single submitter clinical testing
Invitae RCV000535143 SCV000649606 likely benign Qualitative or quantitative defects of dysferlin 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480026 SCV002794377 uncertain significance Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2022-05-05 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000335981 SCV003830941 uncertain significance not provided 2023-09-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274443 SCV001458644 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-09-16 no assertion criteria provided clinical testing

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