ClinVar Miner

Submissions for variant NM_020661.4(AICDA):c.428-17dup

dbSNP: rs5796316
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001844123 SCV000381279 benign Hyperimmunoglobulin M syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454750 SCV000538253 benign not specified 2016-03-29 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
Invitae RCV000947417 SCV001093595 benign Hyper-IgM syndrome type 2 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000947417 SCV001769018 benign Hyper-IgM syndrome type 2 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001612987 SCV001834263 benign not provided 2018-08-09 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000454750 SCV004233399 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 99% of patients studied by a panel of primary immunodeficiencies. Number of patients: 94. Only high quality variants are reported.
GenomeConnect, ClinGen RCV001612987 SCV002074570 not provided not provided no assertion provided phenotyping only Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.

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