Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000615258 | SCV000711150 | likely benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | p.Lys725Lys in Exon 21 of MYO6: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.2% (25/10396) of A frican American chromosomes by the Exome Aggregation Consortium (ExAC, http://ex ac.broadinstitute.org; dbSNP rs116571790). |
Gene |
RCV001546250 | SCV001765741 | likely benign | not provided | 2021-03-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001546250 | SCV002433681 | benign | not provided | 2023-11-19 | criteria provided, single submitter | clinical testing |