ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.1347_1348del (p.Arg449fs)

dbSNP: rs1851867365
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Wuerzburg RCV001328478 SCV001519632 likely pathogenic Distal lower limb muscle weakness no assertion criteria provided clinical testing

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