Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155229 | SCV000204915 | likely benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | Asn529Asn in Exon 14 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 0.1% (3/3632) of Afri can American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS). |
Invitae | RCV000977245 | SCV001125159 | likely benign | not provided | 2024-01-11 | criteria provided, single submitter | clinical testing |