Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724270 | SCV000233130 | uncertain significance | not provided | 2014-12-12 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000223262 | SCV000270105 | likely benign | not specified | 2015-01-29 | criteria provided, single submitter | clinical testing | p.Leu704Leu in exon 9 of DFNB31: 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. This variant has been identified in 6/1156 2 of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org}. |
Invitae | RCV000724270 | SCV001635080 | likely benign | not provided | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000724270 | SCV001782641 | likely benign | not provided | 2018-06-21 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 23441107) |