Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000576881 | SCV000807435 | pathogenic | Intellectual disability, autosomal dominant 8 | criteria provided, single submitter | clinical testing | ||
Ce |
RCV001092464 | SCV001248985 | pathogenic | not provided | 2017-04-01 | criteria provided, single submitter | clinical testing | |
Laboratory of Molecular Genetics |
RCV001375029 | SCV001572317 | pathogenic | Neurodevelopmental disorder | 2020-10-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001092464 | SCV001783439 | pathogenic | not provided | 2020-04-02 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate G827R dramatically alters receptor gating (Amin et al., 2018); No data available from ethnically-matched control populations to assess the frequency of this variant; This variant is associated with the following publications: (PMID: 33144682, 30139991, 29365063, 30217972, 25326635, 29124671, 28389307, 27652284, 26633542, 27164704) |
OMIM | RCV002051706 | SCV000678278 | pathogenic | NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND WITH OR WITHOUT SEIZURES, AUTOSOMAL DOMINANT | 2022-03-28 | no assertion criteria provided | literature only |