Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000616038 | SCV000711110 | benign | not specified | 2017-08-25 | criteria provided, single submitter | clinical testing | p.Arg1845Trp in exon 40 of MYH14: This variant is not expected to have clinical significance because it has been identified in 2.3% (590/25778) of Finnish chrom osomes including 6 homozygotes by the Genome Aggregation Database (gnomAD, http: //gnomad.broadinstitute.org; dbSNP rs199600574). |
Invitae | RCV002065190 | SCV002474282 | benign | not provided | 2022-09-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003945454 | SCV004760109 | benign | MYH14-related condition | 2019-03-20 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |