Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
NIHR Bioresource Rare Diseases, |
RCV000851777 | SCV000899712 | likely pathogenic | Hereditary factor X deficiency disease | 2019-02-01 | criteria provided, single submitter | research | |
3billion | RCV000851777 | SCV002318872 | likely pathogenic | Hereditary factor X deficiency disease | 2022-03-22 | criteria provided, single submitter | clinical testing | Same or different nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic (ClinVar ID: VCV000627060, PMID:12028042). In silico tool predictions suggest damaging effect of the variant on gene or gene product(REVEL: 0.94>=0.6). A missense variant is a common mechanism. The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.0000278). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline. |