Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000132833 | SCV001712011 | benign | Rett syndrome | 2021-03-26 | reviewed by expert panel | curation | The allele frequency of the p.R344W variant in MECP2 is 0.01% in South Asian sub population in gnomAD, which is high enough to be classified as likely benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1). The p.R344W variant is observed in at least 2 unaffected individuals (internal database) (BS2). In summary, the p.R344W variant in MECP2 is classified as benign based on the ACMG/AMP criteria (BS1, BS2). |
Invitae | RCV000863677 | SCV001004378 | likely benign | Severe neonatal-onset encephalopathy with microcephaly | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001571972 | SCV001796538 | likely benign | not provided | 2020-08-24 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27884173, 28454995, 28709814, 21940684, 12872250, 22277191, 16708070, 12161600, 17351020) |
Prevention |
RCV003895001 | SCV004713551 | benign | MECP2-related condition | 2021-07-13 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Rett |
RCV000132833 | SCV000187810 | uncertain significance | Rett syndrome | 2012-09-27 | no assertion criteria provided | curation |