Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000920724 | SCV001066101 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000920724 | SCV001501832 | likely benign | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | MYO18B: BS2 |
Prevention |
RCV003923278 | SCV004740594 | likely benign | MYO18B-related condition | 2022-02-16 | 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). |
Lupski Lab, |
RCV001007846 | SCV001167544 | uncertain significance | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | no assertion criteria provided | research |