ClinVar Miner

Submissions for variant NM_012309.4(SHANK2):c.2453G>A (p.Arg818His) (rs117843717)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000615352 SCV000745302 benign Autism 17 2016-01-12 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000615352 SCV000733105 likely benign Autism 17 no assertion criteria provided clinical testing
Genetic Services Laboratory, University of Chicago RCV000195065 SCV000248873 uncertain significance not specified 2014-12-16 criteria provided, single submitter clinical testing
Genetics Laboratory,Facudade de Medicina de Sao Jose do Rio Preto RCV000590889 SCV000598575 uncertain significance Autistic disorder of childhood onset 2016-01-01 no assertion criteria provided research

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