ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp)

gnomAD frequency: 0.00161  dbSNP: rs139879284
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725163 SCV000334581 uncertain significance not provided 2015-09-14 criteria provided, single submitter clinical testing
GeneDx RCV000725163 SCV000576858 likely benign not provided 2020-06-17 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000725163 SCV000613215 likely benign not provided 2020-02-17 criteria provided, single submitter clinical testing
Invitae RCV001085921 SCV000769856 likely benign Qualitative or quantitative defects of dysferlin 2024-01-31 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000725163 SCV001714593 uncertain significance not provided 2023-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003939934 SCV004752540 likely benign DYSF-related condition 2019-07-03 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001276862 SCV001463477 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-11-11 no assertion criteria provided clinical testing

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