ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2506C>T (p.Arg836Trp)

gnomAD frequency: 0.00003  dbSNP: rs749002214
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000690013 SCV000817689 likely benign Qualitative or quantitative defects of dysferlin 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000997160 SCV001152336 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV000997160 SCV003829654 uncertain significance not provided 2019-12-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825341 SCV002079856 benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-10-28 no assertion criteria provided clinical testing

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