Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000222431 | SCV000270749 | likely benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | p.Ser378Ser in exon 8 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 0.1% (7/8590) of European American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS). |
Gene |
RCV001722161 | SCV000534351 | likely benign | not provided | 2020-10-01 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 21750719) |
Invitae | RCV000463379 | SCV000556958 | benign | Left ventricular noncompaction 8 | 2024-01-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001722161 | SCV003916034 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | PRDM16: BP4, BP7 |