Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151340 | SCV000199314 | uncertain significance | not specified | 2014-03-15 | criteria provided, single submitter | clinical testing | The Arg905His variant in MYH9 has not been previously reported in individuals wi th hearing loss or in large population studies. Computational prediction tools d o not provide strong support for or against an impact to the protein. In summary , additional information is needed to fully assess the clinical significance of this variant. |
Fulgent Genetics, |
RCV000765635 | SCV000896963 | uncertain significance | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Autosomal dominant nonsyndromic hearing loss 17 | 2022-04-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002516039 | SCV003444484 | likely benign | not provided | 2022-07-06 | criteria provided, single submitter | clinical testing |