ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.378G>A (p.Pro126=)

gnomAD frequency: 0.00006  dbSNP: rs377056951
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242037 SCV000309675 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725503 SCV000337385 uncertain significance not provided 2015-11-06 criteria provided, single submitter clinical testing
Invitae RCV001087267 SCV001019903 likely benign Qualitative or quantitative defects of dysferlin 2023-12-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276717 SCV001463244 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-01-24 no assertion criteria provided clinical testing

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