Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003944975 | SCV004756999 | benign | TSC2-related condition | 2021-01-22 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Tuberous sclerosis database |
RCV000055404 | SCV000083625 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |