Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041337 | SCV000065030 | likely benign | not specified | 2012-01-05 | criteria provided, single submitter | clinical testing | Phe637Phe in exon 11 of LMNA: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. This variant has been identified in 0.3% (7/23 34) of chromosomes from a broad, though clinically and racially unspecified popu lation (dbSNP rs117939448) and in 3/3738 African American chromosomes in a borad and clinically unspecified cohort (http://evs.gs.washington.edu/EVS). Phe637Ph e in exon 11 of LMNA (rs117939448; 0.3%, 7/2334) |
Prevention |
RCV000041337 | SCV000316408 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
EGL Genetic Diagnostics, |
RCV000041337 | SCV000339229 | likely benign | not specified | 2016-08-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000473263 | SCV000559819 | benign | Charcot-Marie-Tooth disease, type 2 | 2017-11-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000619457 | SCV000737977 | likely benign | Cardiovascular phenotype | 2017-04-07 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign |