Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000874414 | SCV001016587 | likely benign | Qualitative or quantitative defects of dysferlin | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000874414 | SCV001303336 | uncertain significance | Qualitative or quantitative defects of dysferlin | 2017-08-05 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Gene |
RCV001564800 | SCV001788018 | likely benign | not provided | 2019-08-19 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 25312915, 25591676) |
Natera, |
RCV001830918 | SCV002080338 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-07-29 | no assertion criteria provided | clinical testing |