Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000169928 | SCV000170219 | benign | not specified | 2013-03-18 | 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. |
Eurofins Ntd Llc |
RCV000169928 | SCV000230273 | benign | not specified | 2014-08-15 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000169928 | SCV000247980 | benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000224787 | SCV000281658 | likely benign | not provided | 2014-12-05 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000225683 | SCV000282492 | benign | Rett syndrome | 2015-10-02 | criteria provided, single submitter | clinical testing | The observed allele frequency of this variant in the large and diverse ExAC cohort is 48/87676 (1/1827) with 20 hemizygotes, suggesting that it is a benign polymorphism. The variant is classified as a polymorphism/not disease-causing in the literature, and has been shown to not co-segregate with disease in at least 2 families. Variant was observed in cis with pathogenic MECP2 variants (c.473C>T/p.T158M, c.916C>T/p.R306C) in multiple RTT patients. |
Laboratory for Molecular Medicine, |
RCV000169928 | SCV000539603 | likely benign | not specified | 2016-03-28 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC: 0.1% (15/10125) South Asian chromosomes. Duplication of gene associated with intellectual disability, hypotonia, seizures, spasticity. SNVs associated with Rett syndrome. |
Invitae | RCV001086086 | SCV000556731 | benign | Severe neonatal-onset encephalopathy with microcephaly | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000626211 | SCV000746855 | likely benign | X-linked intellectual disability-psychosis-macroorchidism syndrome | 2017-12-18 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000225683 | SCV000746927 | likely benign | Rett syndrome | 2017-12-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002316387 | SCV000851917 | benign | Inborn genetic diseases | 2017-08-04 | 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. |
Mendelics | RCV000225683 | SCV001142086 | likely benign | Rett syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Centre for Population Genomics, |
RCV000225683 | SCV004098735 | benign | Rett syndrome | 2023-08-14 | criteria provided, single submitter | curation | This variant has been collected from RettBASE and curated to current modified ACMG/AMP criteria.Based on the classification scheme defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders Specifications to the ACMG/AMP Variant Interpretation Guidelines VCEP 2.0, this variant is classified as benign. At least the following criteria are met: The allele frequency of this variant in at least one population in gnomAD is higher than the 0.03% threshold defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders VCEP 2.0 (BA1). The variant is observed in at least 2 individuals with no features of Rett Syndrome (BS2). |
Rett |
RCV000169928 | SCV000188161 | benign | not specified | 2013-06-12 | no assertion criteria provided | curation |