Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000250156 | SCV000301871 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Eurofins Ntd Llc |
RCV000725636 | SCV000338313 | uncertain significance | not provided | 2018-05-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000250156 | SCV000521203 | likely benign | not specified | 2018-02-21 | 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 | RCV001080761 | SCV000645477 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000725636 | SCV001149399 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | CAPN3: BP4, BP7 |
Genome- |
RCV001080761 | SCV001716344 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2021-05-18 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001080761 | SCV002085532 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2020-02-10 | no assertion criteria provided | clinical testing |