Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001066544 | SCV001231558 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003145333 | SCV003831430 | uncertain significance | not provided | 2022-11-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004030618 | SCV005017724 | uncertain significance | Cardiovascular phenotype | 2023-11-03 | criteria provided, single submitter | clinical testing | The p.N849I variant (also known as c.2546A>T), located in coding exon 16 of the FLNC gene, results from an A to T substitution at nucleotide position 2546. The asparagine at codon 849 is replaced by isoleucine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |