Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001084898 | SCV000642359 | likely benign | Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000712267 | SCV000714537 | likely benign | not provided | 2019-12-30 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000712267 | SCV000842713 | likely benign | not provided | 2017-12-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000712267 | SCV002563074 | uncertain significance | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | IGHMBP2: PM2 |
Ambry Genetics | RCV002448709 | SCV002752916 | likely benign | Inborn genetic diseases | 2020-02-11 | 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. |
ARUP Laboratories, |
RCV000712267 | SCV004564602 | likely benign | not provided | 2023-11-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004553227 | SCV004737050 | likely benign | IGHMBP2-related disorder | 2020-03-09 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |