ClinVar Miner

Submissions for variant NM_000186.3(CFH):c.184G>A (p.Val62Ile) (rs800292)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000274380 SCV000352348 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 Clinical Services Laboratory,Illumina RCV000331871 SCV000352349 benign Membranoproliferative glomerulonephritis with complement factor h deficiency 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 Clinical Services Laboratory,Illumina RCV000374816 SCV000352350 benign Atypical hemolytic-uremic syndrome 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 Clinical Services Laboratory,Illumina RCV000018017 SCV000352351 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). 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.
Mendelics RCV000274380 SCV001135487 benign Basal laminar drusen 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000018017 SCV000038296 risk factor Age-related macular degeneration 4 2011-09-11 no assertion criteria provided literature only
Department of Ophthalmology and Visual Sciences Kyoto University RCV000190297 SCV000196520 not provided not provided no assertion provided not provided

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