ClinVar Miner

Submissions for variant NM_198053.3(CD247):c.300+121A>G

gnomAD frequency: 0.86442  dbSNP: rs2462553
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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 RCV001554850 SCV001776167 benign Immunodeficiency 25 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001615334 SCV001834516 benign not provided 2018-07-02 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003394143 SCV004101993 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 63% of patients studied by a panel of primary immunodeficiencies. Number of patients: 60. Only high quality variants are reported.

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