Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151500 | SCV000199581 | likely benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | Ala875Ala in Exon 22 of MYO7A: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 1/6796 European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS). |
Invitae | RCV000927346 | SCV001072928 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing |