Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036146 | SCV000059798 | benign | not specified | 2011-03-25 | criteria provided, single submitter | clinical testing | Asn1487Asn in exon 34 of MYO7A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located in a splice site and has been identified in 2% of cases. |
Gene |
RCV000036146 | SCV000170592 | benign | not specified | 2012-09-06 | 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. |
EGL Genetic Diagnostics, |
RCV000036146 | SCV000229684 | benign | not specified | 2014-10-16 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000391381 | SCV000374374 | likely benign | Nonsyndromic Hearing Loss, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000291934 | SCV000374375 | likely benign | Retinitis pigmentosa-deafness syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000344591 | SCV000374376 | likely benign | Nonsyndromic Hearing Loss, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing |