Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Undiagnosed Diseases Network, |
RCV001255968 | SCV001432745 | uncertain significance | SPOP-related condition | 2020-02-24 | criteria provided, single submitter | clinical testing | |
SIB Swiss Institute of Bioinformatics | RCV001030770 | SCV001432979 | likely pathogenic | Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies | 2020-09-10 | criteria provided, single submitter | curation | This variant is interpreted as likely pathogenic for Nabais Sa-de Vries syndrome 2, autosomal dominant. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); De novo (paternity and maternity confirmed) (PS2); Missense variant in a gene that has a low rate of benign missense variation and in which missense variants are a common mechanism of disease (PP2); Well-established functional studies show a deleterious effect (PS3 downgraded to supporting). |
OMIM | RCV001030770 | SCV001194278 | pathogenic | Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies | 2020-05-01 | no assertion criteria provided | literature only |