Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000790920 | SCV000930167 | uncertain significance | not specified | 2019-04-27 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000988510 | SCV001138257 | uncertain significance | Obesity | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002513118 | SCV003256372 | likely benign | not provided | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003914855 | SCV004733347 | likely benign | BDNF-related condition | 2022-02-01 | 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). |
OMIM | RCV000019266 | SCV000039554 | uncertain significance | Congenital central hypoventilation | 2002-02-01 | no assertion criteria provided | literature only |