Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000218178 | SCV000268887 | benign | not specified | 2015-05-05 | criteria provided, single submitter | clinical testing | c.472+4C>T in intron 3 of CLRN1: This variant is not expected to have clinical s ignificance because it has been identified at high frequency in multiple populat ions, including in 3.7% (275/7400) of South Asian chromosomes by the Exome Aggre gation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs16846663). |
Preventiongenetics, |
RCV000218178 | SCV000307002 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000838420 | SCV000980287 | benign | not provided | 2018-06-15 | 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. |
Athena Diagnostics Inc | RCV000838420 | SCV001143623 | benign | not provided | 2019-02-20 | criteria provided, single submitter | clinical testing | |
Pars Genome Lab | RCV001527489 | SCV001738520 | benign | Usher syndrome type 3A | 2021-06-15 | criteria provided, single submitter | clinical testing |