Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000081267 | SCV000113175 | benign | not specified | 2013-05-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000081267 | SCV000170239 | benign | not specified | 2014-05-23 | 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. |
Prevention |
RCV000081267 | SCV000310839 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV000243489 | SCV000319456 | benign | Cardiovascular phenotype | 2014-11-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000460000 | SCV000559588 | benign | FG syndrome 1 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000716061 | SCV000846894 | benign | History of neurodevelopmental disorder | 2014-11-25 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000081267 | SCV000151829 | likely benign | not specified | no assertion criteria provided | clinical testing | Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. |