Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000123777 | SCV000167120 | benign | not specified | 2013-12-09 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Athena Diagnostics Inc | RCV000123777 | SCV000612464 | benign | not specified | 2016-10-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000536946 | SCV000640004 | benign | Syndromic X-linked intellectual disability Hedera type | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000123777 | SCV000705393 | benign | not specified | 2017-01-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000721048 | SCV000851933 | likely benign | History of neurodevelopmental disorder | 2012-10-04 | 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. |
Genome Diagnostics Laboratory, |
RCV001701758 | SCV001932027 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001701758 | SCV001967442 | likely benign | not provided | no assertion criteria provided | clinical testing |