ClinVar Miner

Submissions for variant NM_000344.3(SMN1):c.815A>G (p.Tyr272Cys) (rs104893922)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518253 SCV000615355 pathogenic not provided 2017-06-02 criteria provided, single submitter clinical testing
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children RCV000009737 SCV000924369 likely pathogenic Werdnig-Hoffmann disease 2016-03-01 criteria provided, single submitter clinical testing
OMIM RCV000009737 SCV000029958 pathogenic Werdnig-Hoffmann disease 1995-01-13 no assertion criteria provided literature only

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