ClinVar Miner

Submissions for variant NM_000022.4(ADA):c.607-48C>T

gnomAD frequency: 0.13138  dbSNP: rs929089
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001527308 SCV001738271 benign Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV001712953 SCV001944242 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003487426 SCV004233707 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 27% of patients studied by a panel of primary immunodeficiencies. Number of patients: 26. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001712953 SCV005311858 benign not provided criteria provided, single submitter not provided

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