Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Database of Curated Mutations |
RCV000425556 | SCV000505006 | likely pathogenic | Neoplasm | 2015-07-14 | no assertion criteria provided | literature only | |
Institute for Genomic Medicine |
RCV001290349 | SCV001478395 | pathogenic | Vascular Malformations and Overgrowth | 2020-11-08 | no assertion criteria provided | research | This alteration is both well-represented in cancer as identified in the COSMIC database with >=20 documented instances and also considered to occur in a statistically significant hotspot or region according to cancerhotspots.org database [PS_CANCER], is supported by well-established models demonstrating downstream impact of the variant on RNA structure, gene expression, or protein function [PS3], is of apparent somatic mosaic etiology with moderate supporting evidence including no discernible strand bias, in a region absent of repetition and sequence homology, with clean, high-quality reads, having a variant allele fraction < 3% [PS2_Mod], and is a missense variant in a gene that has a low rate of benign missense variation and in which missense variants are a common mechanism of disease [PP2]. |