Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000153603 | SCV000170798 | benign | not specified | 2012-04-09 | 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. |
Eurofins Ntd Llc |
RCV000153603 | SCV000203144 | benign | not specified | 2014-02-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002055716 | SCV002404194 | benign | Pitt-Hopkins-like syndrome 2 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003422016 | SCV004146135 | likely benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | NRXN1: BS2 |