Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150967 | SCV000198641 | likely benign | not specified | 2013-07-28 | criteria provided, single submitter | clinical testing | Tyr612Tyr in Exon 32 LOXHD1: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, is not located within t he splice consensus sequence, and has been identified in 1.2% (6/490) of African chromosomes by the 1000 Genomes Project and 0.2% (3/1384) of African American c hromosomes by the NHLBI Exome sequencing project (http://evs.gs.washington.edu/E VS/; dbSNP rs114736976). |
Eurofins Ntd Llc |
RCV000150967 | SCV000855989 | likely benign | not specified | 2017-07-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000973580 | SCV001121345 | benign | not provided | 2020-07-20 | criteria provided, single submitter | clinical testing |