Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000252446 | SCV000301883 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Eurofins Ntd Llc |
RCV000252446 | SCV000331185 | likely benign | not specified | 2015-11-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001705327 | SCV000730402 | likely benign | not provided | 2020-12-08 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 16650086, 18055493) |
Invitae | RCV000874543 | SCV001016733 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000874543 | SCV001456715 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2020-04-17 | no assertion criteria provided | clinical testing |