Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000132938 | SCV000190975 | benign | not provided | 2014-01-22 | criteria provided, single submitter | clinical testing | The c.1168_1173delCCACCT variant in the MECP2 gene has been reported previously in girl with Rett syndrome (Djarmati et al., 2007). The deletion causes an in-frame loss of two Proline amino acids at codon 390 and 391, denoted p.Pro390_Pro391del. The c.1168_1173delCCACCT variant is described as a polymorphism in a gene specific mutation database as this variant was reported in an unaffected family member. Additionally, this variant is present in the NHLBI Exome Sequencing Project using alternate transcript numbering and has been observed in the homozygous state in a female and hemizygous in three males. This variant has been observed to be maternally inherited. The variant is found in MECP2 panel(s). |
Genetic Services Laboratory, |
RCV000169922 | SCV000247936 | likely benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Molecular Diagnostics Lab, |
RCV000445582 | SCV000537176 | likely benign | Rett syndrome | 2015-07-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001080264 | SCV001004809 | likely benign | Severe neonatal-onset encephalopathy with microcephaly | 2019-10-20 | criteria provided, single submitter | clinical testing | |
Rett |
RCV000169922 | SCV000187919 | benign | not specified | 2014-02-05 | no assertion criteria provided | curation |