Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000587862 | SCV000696059 | likely benign | not specified | 2019-08-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000083726 | SCV000753989 | likely benign | Familial Mediterranean fever | 2024-01-21 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001705807 | SCV001474343 | benign | not provided | 2020-05-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001705807 | SCV001885564 | likely benign | not provided | 2020-02-17 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 9668175) |
Genome Diagnostics Laboratory, |
RCV002262638 | SCV002543726 | uncertain significance | Autoinflammatory syndrome | 2021-10-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001705807 | SCV004010447 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | MEFV: BP4, BP7 |
Ambry Genetics | RCV003352768 | SCV004051490 | likely benign | Inborn genetic diseases | 2023-08-29 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Unité médicale des maladies autoinflammatoires, |
RCV000083726 | SCV000115819 | not provided | Familial Mediterranean fever | no assertion provided | not provided | ||
Natera, |
RCV000083726 | SCV002087479 | likely benign | Familial Mediterranean fever | 2020-02-07 | no assertion criteria provided | clinical testing |