Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000153024 | SCV000202469 | benign | not specified | 2014-04-18 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000153024 | SCV000248023 | likely benign | not specified | 2014-06-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000253558 | SCV000320062 | benign | Cardiovascular phenotype | 2017-05-31 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence |
Gene |
RCV000153024 | SCV000565122 | likely benign | not specified | 2018-03-06 | 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. |
Invitae | RCV000633697 | SCV000754964 | benign | FG syndrome 1 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000721006 | SCV000851890 | benign | History of neurodevelopmental disorder | 2017-05-31 | criteria provided, single submitter | clinical testing | Insufficient or conflicting evidence;Rarity in general population databases (dbsnp, esp, 1000 genomes) |
Ce |
RCV001172017 | SCV001334946 | likely benign | not provided | 2020-03-01 | criteria provided, single submitter | clinical testing |