ClinVar Miner

Submissions for variant NM_000186.3(CFH):c.184G>A (p.Val62Ile) (rs800292)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Ophthalmology and Visual Sciences Kyoto University RCV000190297 SCV000196520 not provided not provided no assertion provided not provided
Illumina Clinical Services Laboratory,Illumina RCV000274380 SCV000352348 benign Basal laminar drusen 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331871 SCV000352349 benign Mesangiocapillary glomerulonephritis, type II 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374816 SCV000352350 benign Atypical hemolytic uremic syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281564 SCV000352351 benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
OMIM RCV000018017 SCV000038296 risk factor Age-related macular degeneration 4 2011-09-11 no assertion criteria provided literature only

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