ClinVar Miner

Submissions for variant NM_022464.5(SIL1):c.1039G>A (p.Glu347Lys) (rs73265454)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202671 SCV000257751 uncertain significance not specified 2015-07-17 criteria provided, single submitter clinical testing
Invitae RCV000872718 SCV001014575 likely benign Marinesco-Sjögren syndrome 2019-12-31 criteria provided, single submitter clinical testing

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