Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000264809 | SCV000337754 | uncertain significance | not provided | 2015-12-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001241483 | SCV001414505 | likely benign | Qualitative or quantitative defects of dysferlin | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002521928 | SCV003682866 | uncertain significance | Inborn genetic diseases | 2022-01-19 | criteria provided, single submitter | clinical testing | The c.1133G>A (p.G378E) alteration is located in exon 12 (coding exon 12) of the DYSF gene. This alteration results from a G to A substitution at nucleotide position 1133, causing the glycine (G) at amino acid position 378 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV000264809 | SCV003829630 | uncertain significance | not provided | 2023-03-15 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001828209 | SCV002079790 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2019-10-28 | no assertion criteria provided | clinical testing |