Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041331 | SCV000065024 | benign | not specified | 2015-09-29 | criteria provided, single submitter | clinical testing | p.Leu587Leu in exon 11 of LMNA: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.7% (36/5272) of Finnish chromosomes and 0.3% (187/59480) of European chromosomes by the Exome Ag gregation Consortium (ExAC, http://exac.broadinstitute.org/; dbSNP rs80356813). |
EGL Genetic Diagnostics, |
RCV000041331 | SCV000114726 | likely benign | not specified | 2015-10-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001085192 | SCV000291553 | benign | Charcot-Marie-Tooth disease, type 2 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000041331 | SCV000316407 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV000249377 | SCV000318704 | likely benign | Cardiovascular phenotype | 2015-10-02 | criteria provided, single submitter | clinical testing | Synonymous alterations with insufficient evidence to classify as benign |
Genetic Services Laboratory, |
RCV000041331 | SCV000595613 | likely benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000710161 | SCV000614026 | benign | not provided | 2017-10-19 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000030149 | SCV000901154 | benign | Cardiomyopathy | 2016-02-24 | criteria provided, single submitter | clinical testing | |
Color | RCV000030149 | SCV000910777 | benign | Cardiomyopathy | 2018-03-08 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001172632 | SCV001335695 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Integrated Genetics/Laboratory Corporation of America | RCV000030149 | SCV000052804 | benign | Cardiomyopathy | 2015-05-20 | no assertion criteria provided | clinical testing |