Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000081199 | SCV000113107 | benign | not specified | 2014-04-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000081199 | SCV000170236 | benign | not specified | 2013-02-25 | 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, |
RCV000081199 | SCV000247949 | benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001085261 | SCV000288786 | benign | Severe neonatal-onset encephalopathy with microcephaly | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000712281 | SCV000842731 | benign | not provided | 2017-11-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000719389 | SCV000850255 | benign | History of neurodevelopmental disorder | 2016-10-05 | criteria provided, single submitter | clinical testing | General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance |
Ce |
RCV000712281 | SCV001150508 | likely benign | not provided | 2021-06-01 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000712281 | SCV002049700 | benign | not provided | 2021-08-09 | criteria provided, single submitter | clinical testing | |
Centre for Population Genomics, |
RCV003380414 | SCV004098857 | 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). 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 |
RCV000081199 | SCV000187978 | benign | not specified | 2013-12-05 | no assertion criteria provided | curation |