Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000124881 | SCV000168321 | benign | not specified | 2013-11-20 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Prevention |
RCV000124881 | SCV000308580 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Eurofins Ntd Llc |
RCV000124881 | SCV000344295 | benign | not specified | 2016-08-27 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000124881 | SCV000594540 | benign | not specified | 2021-12-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001795233 | SCV000765739 | benign | Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant | 2024-01-26 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001812027 | SCV000883784 | likely benign | not provided | 2020-02-12 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002262721 | SCV002543438 | benign | Autoinflammatory syndrome | 2021-03-26 | criteria provided, single submitter | clinical testing |