Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000213854 | SCV000270927 | likely benign | not specified | 2015-11-09 | criteria provided, single submitter | clinical testing | c.150+13G>T in intron 4 of TNNI3: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. It has been identified in 3/8160 of South Asian chromosomes by the Exome Aggregati on Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs73617692). |