ClinVar Miner

Submissions for variant NM_000186.3(CFH):c.1548T>A (p.Asn516Lys) (rs147403664)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000364256 SCV000352404 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269675 SCV000352405 likely benign Basal laminar drusen 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310698 SCV000352406 likely benign Atypical hemolytic uremic syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365181 SCV000352407 likely benign Mesangiocapillary glomerulonephritis, type II 2016-06-14 criteria provided, single submitter clinical testing

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