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

gnomAD frequency: 0.00013  dbSNP: rs376025865

Total submissions: 5

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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000875360	SCV001017674	likely benign	Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6	2025-01-30	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	no assertion criteria provided	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).