Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000606759 | SCV000731696 | likely benign | not specified | 2017-08-10 | criteria provided, single submitter | clinical testing | p.Arg894Arg in exon 22 of MYH14: 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 0.23% (50/21448) of African chromosomes including 1 homozygote by the Genome Aggregation Databas e (gnomAD, http://gnomad.broadinstitute.org/; dbSNP rs34805056). |
Invitae | RCV000896715 | SCV001040822 | benign | not provided | 2023-12-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000896715 | SCV001794568 | likely benign | not provided | 2020-07-17 | criteria provided, single submitter | clinical testing |