Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000219335 | SCV000270353 | likely benign | not specified | 2015-07-22 | criteria provided, single submitter | clinical testing | p.Pro675Pro in exon 12 of LDB3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 2/66732 European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org). |
Invitae | RCV001498767 | SCV001703520 | likely benign | Myofibrillar myopathy 4 | 2020-07-09 | criteria provided, single submitter | clinical testing |