Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040377 | SCV000064068 | likely benign | not specified | 2016-01-26 | criteria provided, single submitter | clinical testing | p.Pro15996Pro in exon 236 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1/64708 Europea n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs200864020). |
Eurofins Ntd Llc |
RCV000724558 | SCV000228106 | uncertain significance | not provided | 2015-02-18 | criteria provided, single submitter | clinical testing |