Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Rett |
RCV000133350 | SCV000188361 | uncertain significance | not specified | 2014-03-13 | no assertion criteria provided | curation | Not a conserved amino acid residue, sidechain effects likely to be conservative; no parental DNA available for testing; In silico prediction: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = possibly damaging, AlignGVGD = benign (C0) |