Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000179445 | SCV000231694 | likely benign | not specified | 2018-08-21 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000779586 | SCV000916269 | uncertain significance | Autosomal recessive Robinow syndrome | 2017-04-28 | criteria provided, single submitter | clinical testing | The ROR2 c.730C>T (p.Arg244Trp) variant has been reported in one patient in a homozygous state (Ali et al. 2007). The variant was absent from 50 ethnically matched controls but is reported at a frequency of 0.00409 in the South Asian population in the 1000 Genomes Project. Functional studies using transfected HeLa cells demonstrated that the variant protein localized to the endoplasmic reticulum while the wild type protein localized in the plasma membrane (Ali et al. 2007). Based on the evidence, the p.Arg244Trp variant is classified as a variant of unknown significance but suspicious for pathogenicity for Robinow syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. |
Illumina Laboratory Services, |
RCV001166901 | SCV001329323 | benign | Brachydactyly type B1 | 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). 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. |
Invitae | RCV001511051 | SCV001718232 | benign | not provided | 2022-08-15 | criteria provided, single submitter | clinical testing | |
Al Jalila Children's Genomics Center, |
RCV000779586 | SCV001984310 | likely benign | Autosomal recessive Robinow syndrome | 2019-12-29 | criteria provided, single submitter | clinical testing |