Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Preventiongenetics, |
RCV000249001 | SCV000312118 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Ce |
RCV000415742 | SCV000493527 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | RXYLT1: BP4, BS2 |
Center for Pediatric Genomic Medicine, |
RCV000415742 | SCV000510941 | likely benign | not provided | 2016-11-18 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Invitae | RCV000415742 | SCV000652996 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000249001 | SCV000730853 | benign | not specified | 2017-04-20 | 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. |