Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000081196 | SCV000113104 | benign | not specified | 2017-10-05 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000081196 | SCV000247943 | benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV000081196 | SCV000310759 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000464380 | SCV000556735 | benign | Severe neonatal-onset encephalopathy with microcephaly | 2024-02-01 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000587510 | SCV000604149 | benign | not provided | 2021-08-09 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000587510 | SCV000698535 | benign | not provided | 2016-03-24 | criteria provided, single submitter | clinical testing | Variant Summary: The variant of interest causes a synonymous change involving a non-conserved nucleotide with 5/5 in silico programs via Alamut predicting no significant effect on splicing. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 2425/86448 (1/35 including 248 homozygotes and 583 hemizygotes), which significantly exceeds the predicted maximum expected allele frequency for a pathogenic MECP2 variant of 1/120481. In addition, multiple reputable database/clinical laboratories cite the variant with a classification of "benign." Therefore, taking all available lines of evidence into consideration, the variant of interest is classified as Benign. |
Ambry Genetics | RCV000715138 | SCV000845965 | benign | History of neurodevelopmental disorder | 2014-11-24 | 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. |
Gene |
RCV000587510 | SCV001907434 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000587510 | SCV002774016 | benign | not provided | 2021-10-04 | criteria provided, single submitter | clinical testing | |
Centre for Population Genomics, |
RCV003380413 | SCV004098745 | 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). Synonymous or intronic variant outside donor and acceptor splice regions where splicing prediction algorithms do not support significant splicing alteration (spliceAI score <=0.1) (BP4, BP7). |
Rett |
RCV000081196 | SCV000187956 | benign | not specified | 2013-12-05 | no assertion criteria provided | curation |