Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825121 | SCV000966378 | likely benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | Asn1776Asn in Exon 41 of CDH23: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 1/3302 African Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS). |
Invitae | RCV000909313 | SCV001054111 | likely benign | not provided | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001273558 | SCV001456695 | uncertain significance | Usher syndrome type 1 | 2020-04-16 | no assertion criteria provided | clinical testing |