ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.245-11_245-9dup

dbSNP: rs35507625
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001518992 SCV001727784 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294467 SCV002587679 likely benign Atypical hemolytic-uremic syndrome 2020-12-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446799 SCV004172455 benign Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446802 SCV004172456 benign Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446801 SCV004172458 benign Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446800 SCV004172459 benign Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing

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