Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000471195 | SCV000554298 | likely benign | Alstrom syndrome | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000605939 | SCV000731919 | likely benign | not specified | 2017-12-21 | criteria provided, single submitter | clinical testing | p.Ser3246Ser in exon 11 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% (38/126628 ) of European chromosomes by the Genome Aggregation Database (gnomAD, http://gno mad.broadinstitute.org; dbSNP rs370844317). ACMG/AMP criteria applied: BP7. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000605939 | SCV001572447 | likely benign | not specified | 2021-04-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002383845 | SCV002693417 | likely benign | Cardiovascular phenotype | 2019-10-19 | 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. |