ClinVar Miner

Submissions for variant NM_000733.3(CD3E):c.211G>C (p.Asp71His) (rs148647954)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000318049 SCV000367626 uncertain significance Severe Combined Immune Deficiency 2016-06-14 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000615505 SCV000745575 likely benign Immunodeficiency 18 2017-04-25 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000615505 SCV000733002 likely benign Immunodeficiency 18 no assertion criteria provided clinical testing

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