ClinVar Miner

Submissions for variant NM_001372051.1(CASP8):c.1305-19A>G

gnomAD frequency: 0.71850  dbSNP: rs3769818
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001518112 SCV001726756 benign Autoimmune lymphoproliferative syndrome type 2B 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001712930 SCV001945261 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003394096 SCV004101851 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 82% of patients studied by a panel of primary immunodeficiencies. Number of patients: 79. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001712930 SCV005238027 benign not provided criteria provided, single submitter not provided

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