Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000176941 | SCV000228720 | uncertain significance | not provided | 2015-02-03 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000700201 | SCV000828948 | likely benign | CHARGE syndrome | 2025-01-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002314624 | SCV000847911 | likely benign | Inborn genetic diseases | 2017-01-03 | 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. |
Gene |
RCV000176941 | SCV001940291 | likely benign | not provided | 2020-08-13 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 25996639, 28475860, 21158681) |
Prevention |
RCV003927635 | SCV004745446 | likely benign | CHD7-related disorder | 2021-09-27 | no assertion criteria provided | 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). |