Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155426 | SCV000205116 | benign | not specified | 2014-08-19 | criteria provided, single submitter | clinical testing | 1053+11_1053+12delinsTG in intron 11 of MYO3A: This variant is not expected to h ave clinical significance because it is not located within the conserved splice consensus sequence, and has been identified in 46.5% (6041/13006) of European Am erican and African American chromosomes by the NHLBI Exome Sequening Project (ht tp://evs.gs.washington.edu/; dbSNP rs3824697 and rs3824698). |
Prevention |
RCV000155426 | SCV000312805 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000356892 | SCV000361916 | uncertain significance | Nonsyndromic Hearing Loss, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002059543 | SCV002466752 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing |