ClinVar Miner

Submissions for variant NM_001905.4(CTPS1):c.1547-32A>G

gnomAD frequency: 0.46857  dbSNP: rs12144160
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001661321 SCV001876383 benign Severe combined immunodeficiency due to CTPS1 deficiency 2021-07-30 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003394192 SCV004101881 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 RCV004715532 SCV005288306 benign not provided criteria provided, single submitter not provided

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