Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825818 | SCV000967289 | likely benign | not specified | 2018-12-14 | criteria provided, single submitter | clinical testing | The p.His99Tyr variant in POU4F3 is classified as likely benign because it has b een identified in 0.08% (27/34590) of Latino chromosomes by chromosomes by gnomA D (http://gnomad.broadinstitute.org). ACMG/AMP criteria applied: BS1. |
Baylor Genetics | RCV001334073 | SCV001526815 | uncertain significance | Autosomal dominant nonsyndromic hearing loss 15 | 2018-02-13 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Gene |
RCV001557663 | SCV001779464 | likely benign | not provided | 2020-07-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001557663 | SCV002478208 | likely benign | not provided | 2022-09-03 | criteria provided, single submitter | clinical testing |