ClinVar Miner

Submissions for variant NM_022874.2(SMN1):c.397_398AG[1] (p.Glu134fs) (rs77668214)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children RCV000785818 SCV000924388 pathogenic not provided 2016-03-21 criteria provided, single submitter clinical testing
OMIM RCV000009748 SCV000029969 pathogenic Werdnig-Hoffmann disease 2003-08-01 no assertion criteria provided literature only
OMIM RCV000009749 SCV000029970 pathogenic Spinal muscular atrophy, type II 2003-08-01 no assertion criteria provided literature only
OMIM RCV000009750 SCV000029971 pathogenic Kugelberg-Welander disease 2003-08-01 no assertion criteria provided literature only
OMIM RCV000009751 SCV000029972 pathogenic Adult spinal muscular atrophy 2003-08-01 no assertion criteria provided literature only

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