Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000706854 | SCV000835928 | likely benign | Qualitative or quantitative defects of dysferlin | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000711549 | SCV000841928 | uncertain significance | not provided | 2018-05-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002534470 | SCV003678937 | uncertain significance | Inborn genetic diseases | 2021-10-26 | criteria provided, single submitter | clinical testing | The c.1508C>T (p.S503L) alteration is located in exon 17 (coding exon 17) of the DYSF gene. This alteration results from a C to T substitution at nucleotide position 1508, causing the serine (S) at amino acid position 503 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001271777 | SCV001453217 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-03-10 | no assertion criteria provided | clinical testing |