Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000689109 | SCV000816747 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-12-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001556998 | SCV001778684 | likely benign | not provided | 2021-04-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002352129 | SCV002620522 | uncertain significance | Cardiovascular phenotype | 2021-11-09 | criteria provided, single submitter | clinical testing | The c.3872G>A (p.R1291H) alteration is located in exon 22 (coding exon 22) of the FLNC gene. This alteration results from a G to A substitution at nucleotide position 3872, causing the arginine (R) at amino acid position 1291 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV001556998 | SCV003833205 | uncertain significance | not provided | 2019-06-27 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001556998 | SCV004185490 | likely benign | not provided | 2024-04-01 | criteria provided, single submitter | clinical testing | FLNC: BP4, BS2 |