Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000153765 | SCV000203339 | benign | not specified | 2014-01-10 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000153765 | SCV000614763 | benign | not specified | 2017-03-22 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000870932 | SCV001012507 | benign | not provided | 2023-10-25 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000011731 | SCV001141858 | likely benign | Renpenning syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000870932 | SCV004166253 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | PQBP1: BS2 |
OMIM | RCV000011731 | SCV000031963 | pathogenic | Renpenning syndrome | 2006-04-01 | no assertion criteria provided | literature only | |
Prevention |
RCV003934825 | SCV004760731 | likely benign | PQBP1-related disorder | 2020-01-08 | no assertion criteria provided | 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). |