Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001901743 | SCV002174750 | likely benign | not provided | 2022-06-27 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002490223 | SCV002780907 | uncertain significance | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Autosomal dominant nonsyndromic hearing loss 17 | 2024-05-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004538603 | SCV004115281 | uncertain significance | MYH9-related disorder | 2023-08-01 | criteria provided, single submitter | clinical testing | The MYH9 c.1201G>A variant is predicted to result in the amino acid substitution p.Val401Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.023% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/22-36714278-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |