ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.2553C>T (p.Cys851=)

gnomAD frequency: 0.00304  dbSNP: rs138927668
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000261584 SCV000337860 likely benign not specified 2015-12-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000334864 SCV000348544 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 RCV000528882 SCV000652394 benign Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001529992 SCV001776826 likely benign not provided 2021-09-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001529992 SCV002496923 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing ADAR: BP4, BP7, BS2
Fulgent Genetics, Fulgent Genetics RCV000528882 SCV002799871 likely benign Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2021-08-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003338502 SCV004050338 likely benign Aicardi-Goutieres syndrome 6 2023-04-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543058 SCV004786713 likely benign ADAR-related disorder 2019-06-15 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529992 SCV001744439 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000261584 SCV001929315 benign not specified no assertion criteria provided clinical testing

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