Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV001449722 | SCV001652987 | benign | not specified | 2021-02-08 | criteria provided, single submitter | clinical testing | The p.Asp55Glu variant in GRHL3 is classified as benign because it has been identified in 15.97% (4526/282536) of total chromosomes in gnomAD, including 3777 homozygous individuals (http://gnomad.broadinstitute.org). ACMG/AMP criteria applied: BA1. |
Invitae | RCV001511084 | SCV001718269 | benign | Van der Woude syndrome 2 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001673063 | SCV001890948 | benign | not provided | 2020-02-18 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 31332962) |