Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002380420 | SCV002671171 | uncertain significance | Cardiovascular phenotype | 2020-01-06 | criteria provided, single submitter | clinical testing | The c.7385-4A>G intronic variant results from an A to G substitution 4 nucleotides upstream from coding exon 45 in the FLNC gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV003776379 | SCV004571312 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-06-20 | criteria provided, single submitter | clinical testing |