Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037023 | SCV000060679 | likely benign | not specified | 2015-08-11 | criteria provided, single submitter | clinical testing | p.Thr425Thr in Exon 12 of MYH14: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.25% (22/8486) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs149221129). |
Invitae | RCV000904822 | SCV001049369 | benign | not provided | 2023-11-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000904822 | SCV001757503 | likely benign | not provided | 2021-05-25 | criteria provided, single submitter | clinical testing |