Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000723886 | SCV000225587 | uncertain significance | not provided | 2014-09-12 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001085254 | SCV000648309 | benign | Congenital muscular dystrophy due to integrin alpha-7 deficiency | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000174307 | SCV000717313 | likely benign | not specified | 2017-03-23 | 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. |