Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000592872 | SCV000708442 | uncertain significance | not provided | 2017-05-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000592872 | SCV001049737 | likely benign | not provided | 2023-09-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003900351 | SCV004713936 | likely benign | SH3PXD2B-related condition | 2020-09-14 | 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). |