Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000175859 | SCV000227429 | uncertain significance | not provided | 2015-03-05 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000234933 | SCV000466329 | likely benign | Childhood apraxia of speech | 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Ambry Genetics | RCV002336427 | SCV002644615 | benign | Inborn genetic diseases | 2019-03-25 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Ce |
RCV000175859 | SCV004158920 | likely benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | FOXP2: BS1 |
Prevention |
RCV003927612 | SCV004741922 | likely benign | FOXP2-related condition | 2019-06-25 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Gene |
RCV000234933 | SCV000292263 | not provided | Childhood apraxia of speech | no assertion provided | literature only |