Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000180116 | SCV000170249 | benign | not specified | 2011-12-22 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Eurofins Ntd Llc |
RCV000180116 | SCV000232493 | benign | not specified | 2014-11-19 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001811211 | SCV000604167 | benign | not provided | 2023-09-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000030176 | SCV000629027 | benign | Familial Mediterranean fever | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000030176 | SCV001274393 | likely benign | Familial Mediterranean fever | 2018-04-13 | 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. |
Genome Diagnostics Laboratory, |
RCV002262584 | SCV002543720 | benign | Autoinflammatory syndrome | 2022-03-12 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000030176 | SCV003802050 | likely benign | Familial Mediterranean fever | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003125841 | SCV003802051 | likely benign | Familial Mediterranean fever, autosomal dominant | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003125842 | SCV003802052 | likely benign | Acute febrile neutrophilic dermatosis | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000030176 | SCV000052836 | benign | Familial Mediterranean fever | 2011-05-23 | no assertion criteria provided | clinical testing | |
Unité médicale des maladies autoinflammatoires, |
RCV000030176 | SCV000115800 | not provided | Familial Mediterranean fever | no assertion provided | not provided | ||
Natera, |
RCV000030176 | SCV001462104 | benign | Familial Mediterranean fever | 2020-09-16 | no assertion criteria provided | clinical testing |