Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000592327 | SCV000708542 | uncertain significance | not provided | 2017-05-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000592327 | SCV004470792 | likely benign | not provided | 2023-06-14 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003905553 | SCV004718351 | likely benign | C1QTNF5-related disorder | 2019-08-29 | 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). |