Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038469 | SCV000062147 | benign | not specified | 2012-05-07 | criteria provided, single submitter | clinical testing | "Phe395Phe in Exon 14 of MYO1A: 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 4.6% (325/7020) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs17546153)." |
Prevention |
RCV000038469 | SCV000311034 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000038469 | SCV000717121 | benign | not specified | 2017-11-03 | 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. |