Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000219826 | SCV000269735 | benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | Ala1229Ala in exon 16 of PRDM16: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.6% (22/3884) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs188634763). |
Gene |
RCV001722152 | SCV000533646 | likely benign | not provided | 2021-06-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000533903 | SCV000654398 | benign | Left ventricular noncompaction 8 | 2023-12-30 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001722152 | SCV004563376 | benign | not provided | 2023-11-29 | criteria provided, single submitter | clinical testing |