Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Pharm |
RCV003227596 | SCV003925521 | drug response | warfarin response - Dosage | 2021-11-18 | reviewed by expert panel | curation | PharmGKB Level of Evidence 2A: Variants in Level 2A clinical annotations are found in PharmGKB’s Tier 1 Very Important Pharmacogenes (VIPs). These variants are in known pharmacogenes, implying causation of drug phenotype is more likely. These clinical annotations describe variant-drug combinations with a moderate level of evidence supporting the association. For example, the association may be found in multiple cohorts, but there may be a minority of studies that do not support the majority assertion. Level 2A clinical annotations must be supported by at least two independent publications. |
Illumina Laboratory Services, |
RCV001115529 | SCV001273511 | likely benign | Vitamin K-dependent clotting factors, combined deficiency of, type 2 | 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Invitae | RCV001521062 | SCV001730316 | benign | not provided | 2023-08-19 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV002247238 | SCV002516736 | benign | not specified | 2022-05-04 | criteria provided, single submitter | clinical testing | |
ISTH- |
RCV002280858 | SCV002569242 | uncertain significance | Thrombus | criteria provided, single submitter | clinical testing | ||
Ce |
RCV001521062 | SCV004139213 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | VKORC1: PM5, PP3, BS2 |
OMIM | RCV000002296 | SCV000022454 | pathogenic | Warfarin response | 2008-02-01 | no assertion criteria provided | literature only |