Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001712269 | SCV000528797 | likely benign | not provided | 2021-04-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000872848 | SCV001014731 | 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 | |
Ambry Genetics | RCV002460073 | SCV002618103 | likely benign | Inborn genetic diseases | 2019-09-17 | 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. |
Prevention |
RCV004551473 | SCV004737979 | benign | IGHMBP2-related disorder | 2021-02-03 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |