Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000622992 | SCV000742046 | likely pathogenic | Inborn genetic diseases | 2016-12-09 | criteria provided, single submitter | clinical testing | |
Rett |
RCV000169988 | SCV000222293 | likely pathogenic | Atypical Rett syndrome | 2014-03-13 | no assertion criteria provided | curation | Highly conserved residue, In silico prediction: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = probably damaging, AlignGVGD = pathogenic (C65); not in normal population |