ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.1934+8C>T

gnomAD frequency: 0.00013  dbSNP: rs376025865
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000312933 SCV000348549 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 RCV000875360 SCV001017674 likely benign Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2024-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002274971 SCV002562939 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing ADAR: BP4
Genome-Nilou Lab RCV003338555 SCV004050355 benign Aicardi-Goutieres syndrome 6 2023-04-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004537632 SCV004743972 likely benign ADAR-related disorder 2019-09-17 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).

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