Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000153027 | SCV000202472 | uncertain significance | not provided | 2014-03-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001234098 | SCV001406725 | likely benign | CHARGE association | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000153027 | SCV001765654 | likely benign | not provided | 2020-11-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002514949 | SCV003528486 | likely benign | Inborn genetic diseases | 2022-03-29 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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 |
RCV003945205 | SCV004760007 | likely benign | CHD7-related condition | 2022-05-25 | 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). |