Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000649267 | SCV000771092 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001592808 | SCV001825997 | likely benign | not provided | 2018-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002369737 | SCV002692196 | uncertain significance | Cardiovascular phenotype | 2022-05-10 | criteria provided, single submitter | clinical testing | The c.970-5A>G intronic variant results from an A to G substitution 5 nucleotides upstream from coding exon 6 in the FLNC gene. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |