Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000695255 | SCV000823742 | likely benign | Qualitative or quantitative defects of dysferlin | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002493198 | SCV002775172 | uncertain significance | Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003163191 | SCV003868532 | uncertain significance | Inborn genetic diseases | 2023-02-01 | criteria provided, single submitter | clinical testing | The c.5150G>A (p.R1717Q) alteration is located in exon 46 (coding exon 46) of the DYSF gene. This alteration results from a G to A substitution at nucleotide position 5150, causing the arginine (R) at amino acid position 1717 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001274106 | SCV001457850 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-09-16 | no assertion criteria provided | clinical testing |