Total submissions: 18
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000202529 | SCV002540719 | benign | Rett syndrome | 2022-05-10 | reviewed by expert panel | curation | The allele frequency of the p.Glu397Lys variant in MECP2 (NM_004992) is 0.393% in European (Non-Finnish) sub population in gnomAD, which is high enough to be classified as Benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). The p.Glu397Lys variant is observed in at least 2 unaffected individuals (PMID 10577905,12384770, RettBASE) (BS2). In summary, the p.Glu397Lys variant in MECP2 is classified as Benign based on the ACMG/AMP criteria applied (BA1, BS2). |
Eurofins Ntd Llc |
RCV000081194 | SCV000113102 | benign | not specified | 2012-12-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000081194 | SCV000170232 | benign | not specified | 2016-07-15 | 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. |
Genetic Services Laboratory, |
RCV000081194 | SCV000247940 | likely benign | not specified | 2017-06-22 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000224642 | SCV000280649 | likely benign | not provided | 2014-11-26 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Invitae | RCV001081987 | SCV000556742 | benign | Severe neonatal-onset encephalopathy with microcephaly | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000224642 | SCV000609420 | likely benign | not provided | 2017-06-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000716944 | SCV000847789 | benign | History of neurodevelopmental disorder | 2014-08-01 | 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 | RCV000202529 | SCV001142081 | benign | Rett syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000081194 | SCV001476542 | benign | not specified | 2020-04-03 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002498425 | SCV002807850 | likely benign | Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome; Autism, susceptibility to, X-linked 3 | 2022-01-26 | criteria provided, single submitter | clinical testing | |
Centre for Population Genomics, |
RCV000202529 | SCV004098724 | 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). |
Rett |
RCV000081194 | SCV000187932 | benign | not specified | 2013-12-05 | no assertion criteria provided | curation | |
Clinical Molecular Genetics Laboratory, |
RCV000202529 | SCV000257517 | uncertain significance | Rett syndrome | 2013-09-04 | no assertion criteria provided | clinical testing | |
Genomic Diagnostic Laboratory, |
RCV000224642 | SCV000804256 | benign | not provided | 2015-04-03 | no assertion criteria provided | clinical testing | |
Diagnostic Laboratory, |
RCV000081194 | SCV001743998 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000081194 | SCV001928703 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000081194 | SCV001960130 | benign | not specified | no assertion criteria provided | clinical testing |