Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155782 | SCV000205493 | likely benign | not specified | 2015-06-04 | criteria provided, single submitter | clinical testing | p.Tyr434Cys in exon 12 of MYH14: This variant is not expected to have clinical s ignificance because it has been identified in 0.4% (36/8364) of East Asian chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs556541366). |
Invitae | RCV000914855 | SCV001060042 | likely benign | not provided | 2021-11-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000914855 | SCV001791436 | likely benign | not provided | 2019-04-25 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV002498757 | SCV002807419 | likely benign | Autosomal dominant nonsyndromic hearing loss 4A; Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | 2021-08-10 | criteria provided, single submitter | clinical testing |