Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000731114 | SCV000858891 | uncertain significance | not provided | 2018-01-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000808233 | SCV000948330 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-10-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004027002 | SCV005017766 | uncertain significance | Cardiovascular phenotype | 2023-10-10 | criteria provided, single submitter | clinical testing | The p.K502M variant (also known as c.1505A>T), located in coding exon 9 of the FLNC gene, results from an A to T substitution at nucleotide position 1505. The lysine at codon 502 is replaced by methionine, an amino acid with similar 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. |