Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000078679 | SCV000110539 | uncertain significance | not provided | 2013-04-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000078679 | SCV001067798 | benign | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002415575 | SCV002719092 | benign | Inborn genetic diseases | 2018-10-12 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: 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 |
RCV003905041 | SCV004722642 | likely benign | MID1-related condition | 2019-08-08 | 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). |