Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001244059 | SCV001417254 | likely benign | Qualitative or quantitative defects of dysferlin | 2023-11-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003166527 | SCV003887166 | uncertain significance | Inborn genetic diseases | 2023-03-01 | criteria provided, single submitter | clinical testing | The c.3185C>T (p.A1062V) alteration is located in exon 30 (coding exon 30) of the DYSF gene. This alteration results from a C to T substitution at nucleotide position 3185, causing the alanine (A) at amino acid position 1062 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV003490155 | SCV004234435 | uncertain significance | not provided | 2023-03-02 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001836227 | SCV002082267 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-02-13 | no assertion criteria provided | clinical testing |