ClinVar Miner

Submissions for variant NM_148919.4(PSMB8):c.407+6C>T

gnomAD frequency: 0.42678  dbSNP: rs9276810
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000297635 SCV000462139 benign Proteasome-associated autoinflammatory syndrome 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455281 SCV000540129 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
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000297635 SCV000743889 benign Proteasome-associated autoinflammatory syndrome 1 2014-10-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003761937 SCV001729479 benign Proteosome-associated autoinflammatory syndrome 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001675864 SCV001892474 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000297635 SCV002032011 benign Proteasome-associated autoinflammatory syndrome 1 2021-10-25 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000455281 SCV004122981 benign not specified 2023-11-14 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 67% of patients studied by a panel of primary immunodeficiencies. Number of patients: 64. Only high quality variants are reported.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000297635 SCV000734494 benign Proteasome-associated autoinflammatory syndrome 1 no assertion criteria provided clinical testing
GenomeConnect, ClinGen RCV001675864 SCV002074736 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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