Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Division of Genomic Medicine, |
RCV002273946 | SCV002559803 | likely pathogenic | Tuberous sclerosis 2 | 2022-07-19 | criteria provided, single submitter | clinical testing | According to ACMG GL 2015, this variant located in Hamartin binding domain (PM1), absent from controls (PM2), assumed de novo (PM6), multiple lines of computational evidence support a deleterious effect (PP3). Detected in the patient with clinically definitive tuberous sclerosis complex (PP4) and also reported as pathogenic/likely pathogenic in LOVD database (PP5). |
Tuberous sclerosis database |
RCV000043386 | SCV000067192 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |