Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000601404 | SCV000713062 | likely benign | not specified | 2017-04-17 | criteria provided, single submitter | clinical testing | c.1797+G>A in intron 15 of MYO7A: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. It has been identified in 1/11118 Latino chromosomes by the Exome Aggregation Cons ortium (ExAC, http://exac.broadinstitute.org; dbSNP rs781801358). |
Invitae | RCV001490227 | SCV001694787 | likely benign | not provided | 2023-12-22 | criteria provided, single submitter | clinical testing |