ClinVar Miner

Submissions for variant NM_012309.5(SHANK2):c.2338A>C (p.Lys780Gln)

gnomAD frequency: 0.00093  dbSNP: rs55968949
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499709 SCV000597037 uncertain significance not specified 2016-08-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763766 SCV000894661 uncertain significance Autism, susceptibility to, 17 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000881420 SCV001024593 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000881420 SCV004137170 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing SHANK2: BP4, BS1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000881420 SCV001798553 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000881420 SCV001968903 uncertain significance not provided no assertion criteria provided clinical testing

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