Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000219260 | SCV000270522 | likely benign | not specified | 2015-02-04 | criteria provided, single submitter | clinical testing | p.Arg714His in exon 20 of MYO1A: This variant is not expected to have clinical s ignificance for hearing loss due to recent evidence disqualifying an association between variants in this gene and hearing loss (Eisenberger 2014). This variant has been identified in 5/67702 of European chromosomes and 4/16628 South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs369452147) |
Revvity Omics, |
RCV003488471 | SCV004236750 | uncertain significance | not provided | 2021-10-27 | criteria provided, single submitter | clinical testing |