Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
NIHR Bioresource Rare Diseases, |
RCV000852243 | SCV000899982 | likely pathogenic | Factor VII deficiency | 2019-02-01 | criteria provided, single submitter | research | |
Mayo Clinic Laboratories, |
RCV000995102 | SCV001713653 | pathogenic | not provided | 2021-01-18 | criteria provided, single submitter | clinical testing | PS3, PS4_moderate, PM1, PM2, PP5 |
ISTH- |
RCV002245661 | SCV002515619 | likely pathogenic | Congenital factor VII deficiency | criteria provided, single submitter | clinical testing | ||
Fulgent Genetics, |
RCV002487578 | SCV002780003 | pathogenic | Myocardial infarction, susceptibility to; Congenital factor VII deficiency | 2022-04-28 | criteria provided, single submitter | clinical testing | |
3billion | RCV002245661 | SCV003842094 | pathogenic | Congenital factor VII deficiency | 2023-02-23 | criteria provided, single submitter | clinical testing | The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.015%). Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.70; 3Cnet: 0.78). Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000627403). A different missense change at the same codon (p.Ala282Thr) has been reported to be associated with F7 related disorder (PMID: 11129332). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. |
OMIM | RCV000852243 | SCV000033093 | pathogenic | Factor VII deficiency | 1996-09-01 | no assertion criteria provided | literature only | |
Clinical Laboratory Sciences Program |
RCV002245661 | SCV003927967 | pathogenic | Congenital factor VII deficiency | 2023-04-01 | no assertion criteria provided | clinical testing |