ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.1419G>A (p.Ala473=)

gnomAD frequency: 0.43407  dbSNP: rs2274700
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000387444 SCV000352396 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 RCV000281469 SCV000352397 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 RCV000338900 SCV000352398 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV000404891 SCV000352399 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 RCV001521611 SCV001730981 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000387444 SCV001806452 benign Hemolytic uremic syndrome, atypical, susceptibility to, 1 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000281469 SCV001806453 benign Age related macular degeneration 4 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000404891 SCV001806642 benign Basal laminar drusen 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579194 SCV001806643 benign Factor H deficiency 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001521611 SCV001950723 benign not provided 2021-05-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25087612, 21868097, 22848687, 16299065)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294226 SCV002587572 benign Atypical hemolytic-uremic syndrome 2022-10-05 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.