Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000499931 | SCV000595029 | likely benign | not specified | 2015-12-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000499931 | SCV000612269 | likely benign | not specified | 2016-09-19 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000499931 | SCV000701642 | likely benign | not specified | 2016-10-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000966009 | SCV001113294 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001117568 | SCV001275770 | benign | Bilateral frontoparietal polymicrogyria | 2017-04-27 | 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Gene |
RCV000966009 | SCV001752290 | likely benign | not provided | 2021-04-24 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001117568 | SCV002089385 | likely benign | Bilateral frontoparietal polymicrogyria | 2019-12-10 | no assertion criteria provided | clinical testing |