Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000018113 | SCV000781314 | pathogenic | Waardenburg syndrome type 4A | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003236768 | SCV003935571 | uncertain significance | not provided | 2022-12-22 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31028937, 16618617, Kumari_2012_Article, 10964697, 8001158) |
OMIM | RCV000018112 | SCV000038391 | risk factor | Hirschsprung disease, susceptibility to, 2 | 1994-12-30 | no assertion criteria provided | literature only | |
OMIM | RCV000018113 | SCV000038392 | pathogenic | Waardenburg syndrome type 4A | 1994-12-30 | no assertion criteria provided | literature only |