ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1080C>T (p.Asp360=)

gnomAD frequency: 0.00001  dbSNP: rs886044211
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000331214 SCV000343958 uncertain significance not provided 2016-07-26 criteria provided, single submitter clinical testing
Invitae RCV002519322 SCV002937701 likely benign Qualitative or quantitative defects of dysferlin 2023-09-06 criteria provided, single submitter clinical testing

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