Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000022427 | SCV000593030 | pathogenic | Baraitser-winter syndrome 2 | 2015-12-02 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000022427 | SCV000043716 | pathogenic | Baraitser-winter syndrome 2 | 2012-02-26 | no assertion criteria provided | literature only | |
Uni |
RCV000059730 | SCV000091300 | not provided | not provided | no assertion provided | not provided | ||
Genetic Testing Center for Deafness, |
RCV000770804 | SCV000902290 | likely pathogenic | Autosomal dominant nonsyndromic hearing loss 20 | 2019-02-26 | no assertion criteria provided | case-control | |
University of Washington Center for Mendelian Genomics, |
RCV001291159 | SCV001479541 | likely pathogenic | Lissencephaly | no assertion criteria provided | research |