ClinVar Miner

Submissions for variant NM_006397.2(RNASEH2A):c.33A>G (p.Thr11=) (rs11554400)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000244231 SCV000311476 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357131 SCV000410819 likely benign Aicardi Goutieres syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare 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
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625139 SCV000745266 benign Aicardi Goutieres syndrome 4 2015-09-21 criteria provided, single submitter clinical testing

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