Submissions for variant NM_006397.3(RNASEH2A):c.33A>G (p.Thr11=)

gnomAD frequency: 0.06936  dbSNP: rs11554400

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000244231	SCV000311476	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000625139	SCV000410819	benign	Aicardi-Goutieres syndrome 4	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000244231	SCV000540193	benign	not specified	2016-03-29	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000625139	SCV000743853	benign	Aicardi-Goutieres syndrome 4	2017-07-28	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625139	SCV000745266	benign	Aicardi-Goutieres syndrome 4	2015-09-21	criteria provided, single submitter	clinical testing
Invitae	RCV000625139	SCV001727119	benign	Aicardi-Goutieres syndrome 4	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001636792	SCV001848806	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing