ClinVar Miner

Submissions for variant NM_130384.3(ATRIP):c.*665C>T

gnomAD frequency: 0.00108  dbSNP: rs548710061
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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 RCV000282621 SCV000445004 likely benign Aicardi Goutieres syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000337669 SCV000445005 likely benign Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 2016-06-14 criteria provided, single submitter clinical testing

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