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

gnomAD frequency: 0.00304  dbSNP: rs138927668

Total submissions: 11

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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000528882	SCV000652394	benign	Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6	2025-02-04	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	2024-10-01	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
Breakthrough Genomics, Breakthrough Genomics	RCV001529992	SCV005262227	likely benign	not provided		criteria provided, single submitter	not provided
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
PreventionGenetics, part of Exact Sciences	RCV004543058	SCV004786713	likely benign	ADAR-related disorder	2019-06-15	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).