ClinVar Miner

Submissions for variant NM_001905.4(CTPS1):c.1006-19_1006-18del

gnomAD frequency: 0.07392  dbSNP: rs140062309
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001515485 SCV001723572 benign Severe combined immunodeficiency due to CTPS1 deficiency 2024-02-01 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003399291 SCV004102471 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 25% of patients studied by a panel of primary immunodeficiencies. Number of patients: 24. Only high quality variants are reported.

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