ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3343C>T (p.Arg1115Cys)

gnomAD frequency: 0.00024  dbSNP: rs147483765
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000383544 SCV000341257 uncertain significance not provided 2018-09-14 criteria provided, single submitter clinical testing
Invitae RCV001085324 SCV000769860 likely benign Qualitative or quantitative defects of dysferlin 2024-01-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000383544 SCV003829583 uncertain significance not provided 2022-09-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276442 SCV001462788 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-09-16 no assertion criteria provided clinical testing

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