Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000610573 | SCV000712698 | likely benign | not specified | 2016-12-08 | criteria provided, single submitter | clinical testing | c.2094+8G>A in intron 17 of MYO7A : This variant is not expected to have clinica l significance because it is not located within the splice consensus sequence. I t has been identified in 1/11464 of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs781886473). |
Invitae | RCV002062140 | SCV002357263 | likely benign | not provided | 2022-06-07 | criteria provided, single submitter | clinical testing |