ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.921A>C (p.Ala307=)

gnomAD frequency: 0.61990  dbSNP: rs1061147
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000354801 SCV000352384 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 RCV000267123 SCV000352385 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 RCV000305955 SCV000352386 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 RCV000358116 SCV000352387 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.
Invitae RCV001521609 SCV001730979 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000305955 SCV001806634 benign Basal laminar drusen 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579192 SCV001806635 benign Factor H deficiency 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000358116 SCV001806636 benign Hemolytic uremic syndrome, atypical, susceptibility to, 1 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000267123 SCV001806637 benign Age related macular degeneration 4 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001521609 SCV001950712 benign not provided 2021-05-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 18421087, 15870199)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294224 SCV002587570 benign Atypical hemolytic-uremic syndrome 2022-10-05 criteria provided, single submitter clinical testing

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