ClinVar Miner

Submissions for variant NM_130384.3(ATRIP):c.*272del

dbSNP: rs3135939
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000368756 SCV000444994 likely benign Aicardi Goutieres syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000273941 SCV000444995 likely benign Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 2016-06-14 criteria provided, single submitter clinical testing

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