ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.3443+8G>A

gnomAD frequency: 0.40966  dbSNP: rs9427094
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254451 SCV000306632 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000314873 SCV000348535 benign Symmetrical dyschromatosis of extremities 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001515776 SCV001723926 benign Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001548855 SCV001768838 benign Aicardi-Goutieres syndrome 6 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000314873 SCV001768839 benign Symmetrical dyschromatosis of extremities 2021-07-14 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000254451 SCV004101934 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 70% of patients studied by a panel of primary immunodeficiencies. Number of patients: 67. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001824711 SCV005279981 benign not provided criteria provided, single submitter not provided
GenomeConnect, ClinGen RCV001824711 SCV002074568 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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