Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151442 | SCV000199472 | likely benign | not specified | 2013-08-06 | criteria provided, single submitter | clinical testing | Arg628Gly in Exon 18 of MYO1A: This variant is not expected to have clinical si gnificance because it has been identified in 0.2% (19/8600) European American ch romosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EV S/; dbSNP rs151187460). |
Gene |
RCV000151442 | SCV000714963 | likely benign | not specified | 2017-12-19 | 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. |
Prevention |
RCV003952720 | SCV004769346 | likely benign | MYO1A-related condition | 2020-01-13 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Biesecker Lab/Clinical Genomics Section, |
RCV000211654 | SCV000268687 | likely benign | Autosomal dominant nonsyndromic hearing loss 48 | 2016-05-10 | no assertion criteria provided | research |