ClinVar Miner

Submissions for variant NM_021870.3(FGG):c.571G>A (p.Gly191Arg) (rs6063)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851827 SCV000899811 uncertain significance Hypofibrinogenemia 2019-02-01 criteria provided, single submitter research
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791084 SCV000930354 uncertain significance not specified 2019-04-27 criteria provided, single submitter clinical testing
Invitae RCV000963143 SCV001110279 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001144043 SCV001304618 benign Afibrinogenemia, congenital 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.
OMIM RCV000017800 SCV000038079 pathogenic Fibrinogen Milano XII, digenic 2001-07-15 no assertion criteria provided literature only

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