Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV003430979 | SCV004156194 | benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | HSPA1L: BS1, BS2 |
Prevention |
RCV003957886 | SCV004766877 | likely benign | HSPA1L-related condition | 2022-12-28 | 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). |
Human Development and Health, |
RCV001782882 | SCV000485067 | association | Inflammatory bowel disease 1 | 2016-08-06 | no assertion criteria provided | research | HSPA1L loss of function - Our results indicate that de novo and rare mutations in HSPA1L are associated with IBD and provide insights into the pathogenesis of IBD |