Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000657885 | SCV000779648 | pathogenic | not provided | 2022-12-02 | criteria provided, single submitter | clinical testing | Alters the last nucleotide of the exon and is predicted to destroy the splice donor site and result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 12015165) |
Tuberous sclerosis database |
RCV000043370 | SCV000067176 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |