Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001479077 | SCV001683369 | likely benign | TP63-Related Spectrum Disorders | 2020-12-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000946092 | SCV002575440 | likely benign | not provided | 2020-12-15 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Fulgent Genetics, |
RCV002505406 | SCV002810711 | likely benign | ADULT syndrome; Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome; Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3; Limb-mammary syndrome; Rapp-Hodgkin ectodermal dysplasia syndrome; Split hand-foot malformation 4; Orofacial cleft 8 | 2021-09-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003925862 | SCV004740902 | likely benign | TP63-related condition | 2019-05-14 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |