Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079977 | SCV000111868 | likely benign | not specified | 2017-10-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000546393 | SCV000648307 | benign | Congenital muscular dystrophy due to integrin alpha-7 deficiency | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000079977 | SCV000718959 | likely benign | not specified | 2018-01-23 | 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. |
Ce |
RCV003389753 | SCV004133434 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | ITGA7: BP4, BP7 |