Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000721164 | SCV000899125 | pathogenic | Galloway-Mowat syndrome 7 | 2019-07-09 | criteria provided, single submitter | curation | This variant is interpreted as a Pathogenic for Galloway-Mowat syndrome 7. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PS3 => Well-established functional studies show a deleterious effect (PMID:30179222). PP1-Strong => PP1 upgraded in strength to Strong (PMID:28280135; 30179222; 25558065). PM3 =>Multiple unrelated affected individuals homozygous for the variant (PMID:28280135; 30179222; 25558065; 28117080) |
Ce |
RCV001093320 | SCV001250244 | pathogenic | not provided | 2019-02-01 | criteria provided, single submitter | clinical testing | |
Department Of Translational Genomics |
RCV000162125 | SCV000196410 | likely pathogenic | Global developmental delay; Light complexion; Early onset focal segmental glomerulosclerosis | 2014-12-01 | no assertion criteria provided | research | |
OMIM | RCV000721164 | SCV000852077 | pathogenic | Galloway-Mowat syndrome 7 | 2015-01-13 | no assertion criteria provided | literature only |