Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000335981 | SCV000338995 | uncertain significance | not provided | 2016-01-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000535143 | SCV000649606 | likely benign | Qualitative or quantitative defects of dysferlin | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002480026 | SCV002794377 | uncertain significance | Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset | 2022-05-05 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000335981 | SCV003830941 | uncertain significance | not provided | 2023-09-25 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001274443 | SCV001458644 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-09-16 | no assertion criteria provided | clinical testing |