ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.245-10_245-9dup

dbSNP: rs35507625
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001514608 SCV001722493 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV001699563 SCV001984311 benign not specified 2019-12-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294465 SCV002587678 benign Atypical hemolytic-uremic syndrome 2020-12-30 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV001699563 SCV002760457 benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495799 SCV002796546 benign Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2022-04-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446795 SCV004172460 benign Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446798 SCV004172461 benign Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446797 SCV004172462 benign Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446796 SCV004172463 benign Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699563 SCV001920591 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699563 SCV001926934 benign not specified no assertion criteria provided clinical testing

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