Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151446 | SCV000199476 | benign | not specified | 2012-05-07 | criteria provided, single submitter | clinical testing | Cys506Ser in Exon 16 of MYO1A: This variant is not expected to have clinical sig nificance because it has been identified in 2.0% (76/3738) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs12297756). |
Invitae | RCV000904371 | SCV001048885 | benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000904371 | SCV002007981 | likely benign | not provided | 2018-07-31 | criteria provided, single submitter | clinical testing |