Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037383 | SCV000061040 | likely benign | not specified | 2014-12-04 | criteria provided, single submitter | clinical testing | p.Ser1557Ile in exon 34 of LAMA4: This variant is not expected to have clinical significance because it has been identified in 0.3% (25/8748) of East Asian chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs369887291). Moreover, serine (Ser) at position 1557 is not conserved in mammals or evolutionarily distant species and at least 16 species (14 species of bird, American alligator, stickelback) carry an isolecuine (Ile) at this pos ition, supporting that this change may be tolerated. |
Gene |
RCV001703880 | SCV000250543 | likely benign | not provided | 2021-06-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000206410 | SCV000262001 | likely benign | Dilated cardiomyopathy 1JJ | 2024-01-15 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001170142 | SCV001332683 | benign | Cardiomyopathy | 2018-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002336127 | SCV002636200 | likely benign | Cardiovascular phenotype | 2019-08-14 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |