Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001309258 | SCV001498753 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-11-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001760373 | SCV001989953 | uncertain significance | not provided | 2019-05-20 | 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 that this variant does not alter protein structure/function |
Ambry Genetics | RCV002456400 | SCV002615117 | uncertain significance | Cardiovascular phenotype | 2021-02-04 | criteria provided, single submitter | clinical testing | The c.3502G>A (p.G1168S) alteration is located in exon 21 (coding exon 21) of the FLNC gene. This alteration results from a G to A substitution at nucleotide position 3502, causing the glycine (G) at amino acid position 1168 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV001760373 | SCV003831448 | uncertain significance | not provided | 2019-12-24 | criteria provided, single submitter | clinical testing |