Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000221367 | SCV000270494 | likely benign | not specified | 2015-08-11 | criteria provided, single submitter | clinical testing | p.Arg3374His in exon 63 of MYO15A: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. O f note, >10 mammals have a histidine (His) at this position despite high nearby amino acid sequence conservation. In addition, computational prediction tools d o not suggest a high likelihood of impact to the protein. It has been identified in 0.13% (12/9514) of African chromosomes by the Exome Aggregation Consortium ( ExAC, http://exac.broadinstitute.org; dbSNP rs201794696). |
Athena Diagnostics Inc | RCV000992395 | SCV001144639 | uncertain significance | not provided | 2018-08-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000992395 | SCV002351390 | likely benign | not provided | 2024-01-15 | criteria provided, single submitter | clinical testing |