Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001800450 | SCV002047357 | likely benign | Rett syndrome | 2021-10-26 | reviewed by expert panel | curation | The allele frequency of the p.Pro72Leu variant in MECP2 (NM_004992.3) is 0.01338% in the Ashkenazi Jewish sub population in gnomAD, which is high enough to meet the BS1 criteria based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1). The p.Pro72Leu variant is observed in at least 1 unaffected individual (internal database - Invitae) (BS2_supporting). In summary, the p.Pro72Leu variant in MECP2 is classified as Likely Benign based on the ACMG/AMP criteria (BS1, BS2_supporting). |
Invitae | RCV001034292 | SCV001197632 | likely benign | Severe neonatal-onset encephalopathy with microcephaly | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Rett |
RCV000133032 | SCV000188020 | uncertain significance | not specified | 2006-02-03 | no assertion criteria provided | curation |