ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.2016A>G (p.Gln672=)

gnomAD frequency: 0.14639  dbSNP: rs3753396
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000368440 SCV000352424 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 RCV000395568 SCV000352425 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 RCV000314917 SCV000352426 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.
Illumina Laboratory Services, Illumina RCV000369491 SCV000352427 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.
Invitae RCV001513113 SCV001720658 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000314917 SCV001806454 benign Basal laminar drusen 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579060 SCV001806455 benign Factor H deficiency 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000395568 SCV001806456 benign Hemolytic uremic syndrome, atypical, susceptibility to, 1 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000369491 SCV001806457 benign Age related macular degeneration 4 2021-07-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294229 SCV002587250 benign Focal segmental glomerulosclerosis 2022-09-27 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701990 SCV001930152 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001701990 SCV001957369 benign not specified no assertion criteria provided clinical testing

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