ClinVar Miner

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

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195065 SCV000248873 uncertain significance not specified 2014-12-16 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000615352 SCV000745302 benign Autism 17 2016-01-12 criteria provided, single submitter clinical testing
Invitae RCV000891837 SCV001035675 benign not provided 2019-12-31 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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000615352 SCV000733105 likely benign Autism 17 no assertion criteria provided clinical testing

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