Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151510 | SCV000199600 | likely benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | 4441+7C>T in Intron 33 of MYO7A: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice consensus sequ ence and has been identified in 0.2% (7/3132) of African American chromosomes fr om a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washi ngton.edu/EVS). |
Eurofins Ntd Llc |
RCV000724056 | SCV000229592 | uncertain significance | not provided | 2014-07-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000151510 | SCV000725086 | likely benign | not specified | 2017-11-22 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000724056 | SCV001040220 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV001073918 | SCV001239483 | uncertain significance | Retinal dystrophy | 2018-06-19 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001271762 | SCV001453188 | uncertain significance | Usher syndrome type 1B | 2020-04-16 | no assertion criteria provided | clinical testing |