Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000726142 | SCV000701255 | uncertain significance | not provided | 2016-10-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000726142 | SCV000715143 | likely benign | not provided | 2018-08-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001083525 | SCV001017384 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2D | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000726142 | SCV001145586 | likely benign | not provided | 2019-02-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003952940 | SCV004781314 | likely benign | SGCA-related condition | 2020-10-20 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Natera, |
RCV001083525 | SCV002087563 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2D | 2020-05-14 | no assertion criteria provided | clinical testing |