Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
NIHR Bioresource Rare Diseases, |
RCV000851946 | SCV000899350 | pathogenic | Hereditary factor IX deficiency disease | 2019-02-01 | criteria provided, single submitter | research | |
Prevention |
RCV003398478 | SCV004121397 | pathogenic | F8-related disorder | 2022-12-05 | criteria provided, single submitter | clinical testing | The F8 c.541G>A variant is predicted to result in the amino acid substitution p.Val181Met. This variant is also described using legacy nomenclature as p.Val162Met and has been reported in patients with hemophilia A (Diamond et al. 1992. PubMed ID: 1301932; Downes et al. 2019. PubMed ID: 31064749. Table S3; Green et al. 2008. PubMed ID: 18691168. Table S1; F8 database: http://www.factorviii-db.org/index.php). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as pathogenic. |
OMIM | RCV000010890 | SCV000031117 | pathogenic | Hereditary factor VIII deficiency disease | 1992-01-01 | no assertion criteria provided | literature only | |
Genome Diagnostics Laboratory, |
RCV001701720 | SCV001928917 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001701720 | SCV001956550 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
ISTH- |
RCV000010890 | SCV002515606 | pathogenic | Hereditary factor VIII deficiency disease | no assertion criteria provided | research |