ClinVar Miner

Submissions for variant NM_130384.3(ATRIP):c.*267T>C

gnomAD frequency: 0.00332  dbSNP: rs148393533
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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 RCV000277604 SCV000444992 likely benign Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000314036 SCV000444993 likely benign Aicardi Goutieres syndrome 2016-06-14 criteria provided, single submitter clinical testing

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