Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000173031 | SCV000113138 | likely benign | not specified | 2014-09-10 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000173031 | SCV000152497 | likely benign | not specified | 2017-01-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000173031 | SCV000490765 | uncertain significance | not specified | 2016-12-02 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the RELN gene. The I1217M variant is observed in 298/66,736 (0.4%) alleles from individuals of European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The I1217M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Isoleucine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Ce |
RCV000081230 | SCV000609270 | likely benign | not provided | 2020-02-01 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000081230 | SCV000614866 | benign | not provided | 2019-01-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001083944 | SCV000656287 | likely benign | Norman-Roberts syndrome; Epilepsy, familial temporal lobe, 7 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000987939 | SCV001137433 | benign | Norman-Roberts syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000987939 | SCV001323865 | likely benign | Norman-Roberts syndrome | 2017-05-09 | 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |