ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.1151A>G (p.Lys384Arg)

gnomAD frequency: 0.61729  dbSNP: rs2229857
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175658 SCV000227191 benign not specified 2015-05-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000175658 SCV000306629 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000380536 SCV000348559 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.
Invitae RCV001521985 SCV001731432 benign Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001548963 SCV001768986 benign Aicardi-Goutieres syndrome 6 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000380536 SCV001768987 benign Symmetrical dyschromatosis of extremities 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001723750 SCV001950517 benign not provided 2018-08-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25098560, 31423758)
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000175658 SCV004102500 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 90% of patients studied by a panel of primary immunodeficiencies. Number of patients: 86. Only high quality variants are reported.
GenomeConnect, ClinGen RCV001723750 SCV002075280 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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