Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000153345 | SCV000202829 | benign | not specified | 2013-12-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000721029 | SCV000851913 | likely benign | History of neurodevelopmental disorder | 2013-05-24 | 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. |
Invitae | RCV000952267 | SCV001098757 | benign | not provided | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000153345 | SCV001918046 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000153345 | SCV001964953 | benign | not specified | no assertion criteria provided | clinical testing |