ClinVar Miner

Submissions for variant NM_000484.3(APP):c.-199G>A

gnomAD frequency: 0.00051  dbSNP: rs761755102
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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 RCV000305111 SCV000435544 uncertain significance Early-onset autosomal dominant Alzheimer disease 2016-06-14 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196114 SCV001366592 uncertain significance Cerebral amyloid angiopathy, APP-related 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance.

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