Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151343 | SCV000199317 | likely benign | not specified | 2015-11-12 | criteria provided, single submitter | clinical testing | c.2500-14A>G variant in intron 20 of MYH9: This variant is not expected to have clinical significance because it does not affect the conserved positions of the 3' splice site and computational tools do not suggest an impact to splicing. In addition, it has also been identified in 0.12% (20/16438) of South Asian chromos omes and in 0.1% (54/65316) of European chromosomes by the Exome Aggregation Con sortium (ExAC, http://exac.broadinstitute.org;dbSNP rs199505086). |
Illumina Laboratory Services, |
RCV000261254 | SCV000438420 | likely benign | Autosomal dominant nonsyndromic hearing loss 17 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Illumina Laboratory Services, |
RCV000332858 | SCV000438421 | likely benign | MYH9-related disorder | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Invitae | RCV002055989 | SCV002402900 | benign | not provided | 2023-12-25 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002498704 | SCV002805678 | likely benign | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Autosomal dominant nonsyndromic hearing loss 17 | 2021-10-21 | criteria provided, single submitter | clinical testing |