Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000679030 | SCV000805337 | uncertain significance | not provided | 2015-07-17 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000208803 | SCV003806663 | likely pathogenic | Von Hippel-Lindau syndrome | 2023-01-31 | criteria provided, single submitter | clinical testing | This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 29789510, 18584357, 33618821]. This variant is expected to disrupt protein structure [internal Myriad data]. |
Genomic Diagnostic Laboratory, |
RCV000208803 | SCV000264704 | likely pathogenic | Von Hippel-Lindau syndrome | 2016-02-26 | no assertion criteria provided | clinical testing | |
Clinical Genomics Labs, |
RCV000208803 | SCV001950137 | uncertain significance | Von Hippel-Lindau syndrome | 2020-02-14 | no assertion criteria provided | clinical testing |