Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000081356 | SCV000113287 | benign | not specified | 2013-08-07 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000081356 | SCV000194519 | benign | not specified | 2015-05-11 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000437760 | SCV000511633 | likely benign | not provided | 2016-09-12 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Gene |
RCV000081356 | SCV000728925 | benign | not specified | 2017-04-07 | 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 | RCV000437760 | SCV001107169 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001142675 | SCV001303148 | benign | Microcephalic osteodysplastic primordial dwarfism type II | 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. |
ARUP Laboratories, |
RCV001142675 | SCV001474226 | benign | Microcephalic osteodysplastic primordial dwarfism type II | 2023-11-11 | criteria provided, single submitter | clinical testing | |
Al Jalila Children's Genomics Center, |
RCV000081356 | SCV001984354 | benign | not specified | 2020-01-02 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000437760 | SCV004152029 | benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | PCNT: BP4, BS1, BS2 |
Laboratory of Diagnostic Genome Analysis, |
RCV000437760 | SCV001800437 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000437760 | SCV001967609 | likely benign | not provided | no assertion criteria provided | clinical testing |