Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000716769 | SCV000847612 | likely benign | History of neurodevelopmental disorder | 2019-03-01 | criteria provided, single submitter | clinical testing | In silico models in agreement (benign) ;Sub-population frequency in support of benign classification (not ava blue, manual h-w) |
EGL Genetic Diagnostics, |
RCV000728546 | SCV000856137 | benign | not specified | 2017-07-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000882330 | SCV001025562 | benign | Smith-Lemli-Opitz syndrome | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000882330 | SCV001270543 | uncertain significance | Smith-Lemli-Opitz syndrome | 2017-04-28 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |