Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000861743 | SCV001002137 | benign | Hypoplastic left heart syndrome | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003424382 | SCV004157882 | likely benign | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | HAND1: BP4, BP7 |
Prevention |
RCV003918329 | SCV004736323 | benign | HAND1-related condition | 2019-02-22 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |