Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000292618 | SCV000336933 | uncertain significance | not provided | 2015-11-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000292618 | SCV001114232 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000292618 | SCV001779400 | uncertain significance | not provided | 2022-04-04 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect |
Ce |
RCV000292618 | SCV004150383 | uncertain significance | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003947877 | SCV004766032 | likely benign | FLNB-related condition | 2024-01-24 | 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). |