Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Genomic Medicine, |
RCV000789050 | SCV000927120 | uncertain significance | Hearing impairment | 2019-07-23 | criteria provided, single submitter | research | The c.713T>G variant was identified by genome sequencing in a rare disease research study. It is absent from the gnomAD population database and has never been reported to our knowledge. Familial testing confirmed that it segregates with disease in a manner consistent with autosomal dominant inheritance. In silico prediction tools predict that the variant will be damaging. We therefore interpret c.713T>G as a variant of uncertain significance (VUS). |
OMIM | RCV001003506 | SCV001162359 | pathogenic | Hearing loss, autosomal dominant 76 | 2020-02-21 | no assertion criteria provided | literature only |