Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001232176 | SCV001404722 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-12-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001751453 | SCV001987222 | uncertain significance | not provided | 2019-05-09 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect |
Ambry Genetics | RCV004033150 | SCV004871163 | uncertain significance | Cardiovascular phenotype | 2024-01-24 | criteria provided, single submitter | clinical testing | The c.6280G>A (p.G2094R) alteration is located in exon 38 (coding exon 38) of the FLNC gene. This alteration results from a G to A substitution at nucleotide position 6280, causing the glycine (G) at amino acid position 2094 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |