Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825108 | SCV000966362 | likely benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | p.Ala4077Ala in exon 20 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 3/66722 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs374508659). |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000825108 | SCV001478751 | likely benign | not specified | 2021-01-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001464787 | SCV001668761 | likely benign | Alstrom syndrome | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001570997 | SCV001795386 | likely benign | not provided | 2020-07-22 | criteria provided, single submitter | clinical testing |