Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000173550 | SCV000224672 | likely benign | not specified | 2015-02-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000173550 | SCV000525607 | benign | not specified | 2016-09-29 | 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. |
Invitae | RCV000651598 | SCV000773452 | likely benign | Ehlers-Danlos syndrome, spondylodysplastic type, 2; Spondyloepimetaphyseal dysplasia with joint laxity | 2024-02-01 | criteria provided, single submitter | clinical testing |