ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1281C>T (p.Asp427=)

gnomAD frequency: 0.00007  dbSNP: rs147244033
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593985 SCV000704399 uncertain significance not provided 2016-12-28 criteria provided, single submitter clinical testing
Invitae RCV001087072 SCV001060139 likely benign Qualitative or quantitative defects of dysferlin 2024-01-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001449931 SCV001653355 likely benign Miyoshi muscular dystrophy 1 2021-05-18 criteria provided, single submitter clinical testing

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