Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155185 | SCV000204871 | likely benign | not specified | 2016-06-23 | criteria provided, single submitter | clinical testing | c.769+15C>T in intron 07 of MYH9: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence and has been identified in 39/66728 of European chromosomes and in 16/1157 8 Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs201691359). |
Illumina Clinical Services Laboratory, |
RCV000393035 | SCV000438474 | likely benign | Nonsyndromic Hearing Loss, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000308090 | SCV000438475 | likely benign | MYH9-related disorder | 2016-06-14 | criteria provided, single submitter | clinical testing |