ClinVar Miner

Submissions for variant NM_001242.5(CD27):c.698A>G (p.His233Arg)

gnomAD frequency: 0.99370  dbSNP: rs2532502
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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 RCV000455910 SCV000538633 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: MAF
Labcorp Genetics (formerly Invitae), Labcorp RCV001522852 SCV001732473 benign Lymphoproliferative syndrome 2 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001522852 SCV001776168 benign Lymphoproliferative syndrome 2 2021-07-14 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000455910 SCV004101273 benign not specified 2023-11-02 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 RCV004707270 SCV005236856 benign not provided criteria provided, single submitter not provided

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