Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000668610 | SCV000793242 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 | 2017-08-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003403551 | SCV004105068 | likely pathogenic | MYO7A-related condition | 2023-07-25 | criteria provided, single submitter | clinical testing | The MYO7A c.5488dupG variant is predicted to result in a frameshift and premature protein termination (p.Glu1830Glyfs*81). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in MYO7A are expected to be pathogenic. This variant is interpreted as likely pathogenic. |