Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Undiagnosed Diseases Program Translational Research Laboratory, |
RCV000855658 | SCV000920632 | likely pathogenic | Congenital cerebellar hypoplasia; Epilepsy; Congenital ocular coloboma; Intellectual disability; Dysmorphism; Developmental delay | 2019-05-06 | criteria provided, single submitter | research | |
Undiagnosed Diseases Network, |
RCV000855668 | SCV001499842 | pathogenic | Neurooculocardiogenitourinary syndrome | 2019-08-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003979913 | SCV004797688 | pathogenic | WDR37-related condition | 2024-01-02 | criteria provided, single submitter | clinical testing | The WDR37 c.374C>T variant is predicted to result in the amino acid substitution p.Thr125Ile. This variant has been reported in the de novo state in multiple individuals with WDR37-related diseases (Reis et al. 2019. PubMed ID: 31327510; Kanca et al. 2019. PubMed ID: 31327508; Aldinger et al. 2019. PubMed ID: 31474318. Table S5; Zhu et al. 2022. PubMed ID: 35726512). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as pathogenic. |
Genome |
RCV000509124 | SCV000606936 | not provided | not provided | no assertion provided | phenotyping only | GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. | |
Dobyns Lab, |
RCV000779655 | SCV000916334 | likely pathogenic | Cerebellar vermis hypoplasia; Ventriculomegaly | 2019-02-18 | no assertion criteria provided | research | |
OMIM | RCV000855668 | SCV000998807 | pathogenic | Neurooculocardiogenitourinary syndrome | 2019-11-05 | no assertion criteria provided | literature only | |
University of Washington Center for Mendelian Genomics, |
RCV001258017 | SCV001434831 | likely pathogenic | Congenital cerebellar hypoplasia | no assertion criteria provided | research |