Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151209 | SCV000199044 | benign | not specified | 2016-10-25 | criteria provided, single submitter | clinical testing | p.Thr1997Thr in exon 43 of MYH14: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 0.5% (34/6448) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org; dbSNP rs181567755). |
Gene |
RCV001555198 | SCV001776572 | likely benign | not provided | 2021-02-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001555198 | SCV003269671 | benign | not provided | 2024-01-08 | criteria provided, single submitter | clinical testing |