Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV002472368 | SCV002769740 | benign | Rett syndrome | 2022-12-09 | reviewed by expert panel | curation | The allele frequency of the c.-146_-138del variant in MECP2 (NM_004992.3) is 0.036% in South Asian 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 c.-146_-138del variant is observed in 1 unaffected individual (RettBASE) (BS2_Supporting). In summary, the c.-146_-138del variant in MECP2 is classified as Benign based on the ACMG/AMP criteria (BA1, BS2_Supporting). |
Eurofins Ntd Llc |
RCV000173210 | SCV000224305 | likely benign | not specified | 2015-10-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000807467 | SCV000947520 | likely benign | Severe neonatal-onset encephalopathy with microcephaly | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000678239 | SCV001874746 | uncertain significance | not provided | 2021-07-30 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In frame deletion of 3 amino acids in a repetitive region with no known function |
Prevention |
RCV003955009 | SCV004775580 | likely benign | MECP2-related condition | 2023-09-16 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Genomic Diagnostic Laboratory, |
RCV000678239 | SCV000804265 | uncertain significance | not provided | 2015-04-03 | no assertion criteria provided | clinical testing |