Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000178627 | SCV000230742 | uncertain significance | not provided | 2017-01-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000813699 | SCV000954068 | likely benign | Qualitative or quantitative defects of dysferlin | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003165373 | SCV003905679 | uncertain significance | Inborn genetic diseases | 2023-03-01 | criteria provided, single submitter | clinical testing | The c.5272C>G (p.Q1758E) alteration is located in exon 47 (coding exon 47) of the DYSF gene. This alteration results from a C to G substitution at nucleotide position 5272, causing the glutamine (Q) at amino acid position 1758 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001826908 | SCV002080320 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2019-10-28 | no assertion criteria provided | clinical testing |