Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000174311 | SCV000195133 | likely benign | not specified | 2017-04-26 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000174311 | SCV000225592 | likely benign | not specified | 2015-08-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000210579 | SCV000262963 | likely benign | Inborn genetic diseases | 2013-03-20 | 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. |
Gene |
RCV000174311 | SCV000519711 | benign | not specified | 2018-02-02 | 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. |
Center for Pediatric Genomic Medicine, |
RCV000513904 | SCV000610846 | likely benign | not provided | 2017-05-08 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000513904 | SCV000692629 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | STIL: BP4, BS2 |
Invitae | RCV000513904 | SCV001095720 | benign | not provided | 2023-12-09 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000986319 | SCV001135287 | likely benign | Microcephaly 7, primary, autosomal recessive | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000513904 | SCV001145813 | benign | not provided | 2019-06-17 | criteria provided, single submitter | clinical testing | |
Lupski Lab, |
RCV000454157 | SCV000537981 | likely pathogenic | Abnormal brain morphology | flagged submission | research |