ClinVar Miner

Submissions for variant NM_005475.2(SH2B3):c.622G>C (p.Glu208Gln) (rs202080221)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988910 SCV001138823 uncertain significance Developmental and epileptic encephalopathy, 67 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000023398 SCV000044689 pathogenic Thrombocythemia 1 2010-08-12 no assertion criteria provided literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529953 SCV001744338 uncertain significance not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001529953 SCV001797661 uncertain significance not provided no assertion criteria provided clinical testing

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