ClinVar Miner

Submissions for variant NM_000639.3(FASLG):c.452-28T>C

gnomAD frequency: 0.99043  dbSNP: rs2639653
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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 RCV001702325 SCV001933315 benign Autoimmune lymphoproliferative syndrome type 1 2021-08-10 criteria provided, single submitter clinical testing
GeneDx RCV001707922 SCV001935624 benign not provided 2018-08-08 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003394218 SCV004102055 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 100% of patients studied by a panel of primary immunodeficiencies. Number of patients: 96. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001707922 SCV005288512 benign not provided criteria provided, single submitter not provided

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