Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000213438 | SCV000270363 | likely benign | not specified | 2015-05-28 | criteria provided, single submitter | clinical testing | p.Leu116Leu in exon 1 of LMNA: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. |
Color Diagnostics, |
RCV000771953 | SCV000904907 | likely benign | Cardiomyopathy | 2018-07-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000904865 | SCV001049415 | likely benign | Charcot-Marie-Tooth disease type 2 | 2023-01-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002336594 | SCV002618792 | uncertain significance | Cardiovascular phenotype | 2021-11-29 | criteria provided, single submitter | clinical testing | The c.346C>T variant (also known as p.L116L), located in coding exon 1 of the LMNA gene, results from a C to T substitution at nucleotide position 346. This nucleotide substitution does not change the leucine at codon 116. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |