Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001721420 | SCV000533634 | likely benign | not provided | 2020-01-28 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000437891 | SCV001653067 | likely benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | p.Lys2146Lys in exon 8 of ALMS1: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.03% (5/16438) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs776254949). |
Invitae | RCV001469671 | SCV001673753 | likely benign | Alstrom syndrome | 2023-10-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002365560 | SCV002657447 | likely benign | Cardiovascular phenotype | 2020-10-23 | 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. |