ClinVar Miner

Submissions for variant NM_001228.5(CASP8):c.-26-8189A>G

gnomAD frequency: 0.64497  dbSNP: rs3769823
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455301 SCV000538592 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Labcorp Genetics (formerly Invitae), Labcorp RCV001518111 SCV001726755 benign Autoimmune lymphoproliferative syndrome type 2B 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001675894 SCV001892133 benign not provided 2018-08-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29083408)
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000455301 SCV004101865 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 80% of patients studied by a panel of primary immunodeficiencies. Number of patients: 77. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001675894 SCV005238019 benign not provided criteria provided, single submitter not provided

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