ClinVar Miner

Submissions for variant NM_000732.6(CD3D):c.451-18T>G

gnomAD frequency: 0.61431  dbSNP: rs2276424
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001510135 SCV001717089 benign Immunodeficiency 19 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001672895 SCV001882088 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV001702816 SCV004101876 benign not specified 2023-11-12 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 78% of patients studied by a panel of primary immunodeficiencies. Number of patients: 75. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001672895 SCV005234570 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000604218 SCV000733003 benign Immunodeficiency 104 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702816 SCV001928962 benign not specified no assertion criteria provided clinical testing

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