ClinVar Miner

Submissions for variant NM_006397.2(RNASEH2A):c.662A>G (p.Lys221Arg) (rs143534021)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625140 SCV000745267 likely benign Aicardi Goutieres syndrome 4 2015-09-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625140 SCV000743854 likely benign Aicardi Goutieres syndrome 4 2014-12-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376931 SCV000410828 uncertain significance Aicardi Goutieres syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000625140 SCV000761440 benign Aicardi Goutieres syndrome 4 2017-12-22 criteria provided, single submitter clinical testing

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