Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000133151 | SCV000526561 | likely benign | not specified | 2016-03-31 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000587767 | SCV000698541 | benign | not provided | 2016-08-19 | criteria provided, single submitter | clinical testing | Variant summary: The MECP2 c.527C>G (p.Pro176Arg) variant involves the alteration of a conserved nucleotide. 3/4 in silico tools predict a damaging outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 7/87892 control chromosomes at a frequency of 0.0000796, which is approximately 10 times the estimated maximal expected allele frequency of a pathogenic MECP2 variant (0.0000083), suggesting this variant is likely a benign polymorphism. This variant has been reported in multiple patients, an unaffected relative and healthy individuals as a polymorphism. In addition, multiple reputable databases classified this variant as benign. Taken together, this variant is classified as benign. |
Invitae | RCV002515931 | SCV002936987 | likely benign | Severe neonatal-onset encephalopathy with microcephaly | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Centre for Population Genomics, |
RCV003380475 | SCV004098852 | 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 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 |
RCV000133151 | SCV000188143 | benign | not specified | 2010-03-10 | no assertion criteria provided | curation |