Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000059787 | SCV001022795 | likely benign | not provided | 2023-05-02 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000987902 | SCV001137395 | uncertain significance | Hypogonadotropic hypogonadism 16 with or without anosmia | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003964917 | SCV004792376 | likely benign | SEMA3A-related condition | 2021-08-03 | 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). |
Uni |
RCV000059787 | SCV000091357 | not provided | not provided | no assertion provided | not provided |