ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.2808G>T (p.Glu936Asp)

gnomAD frequency: 0.14779  dbSNP: rs1065489
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000406400 SCV000352465 benign Hemolytic uremic syndrome, atypical, susceptibility to, 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV000307823 SCV000352466 benign Age related macular degeneration 4 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV000362551 SCV000352467 benign CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV000272281 SCV000352468 benign Basal laminar drusen 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Invitae RCV001513114 SCV001720659 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000272281 SCV001806458 benign Basal laminar drusen 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579061 SCV001806459 benign Factor H deficiency 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000406400 SCV001806460 benign Hemolytic uremic syndrome, atypical, susceptibility to, 1 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000307823 SCV001806461 benign Age related macular degeneration 4 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001513114 SCV001845687 benign not provided 2020-09-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31428128, 28173125, 14583443, 22790979, 20694013, 21868097, 18421087, 23660864, 25087612, 22718493)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294233 SCV002587252 benign Focal segmental glomerulosclerosis 2022-09-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494911 SCV002795639 benign Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2022-01-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701991 SCV001929697 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001701991 SCV001951953 benign not specified no assertion criteria provided clinical testing

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