Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000245560 | SCV000232597 | benign | not specified | 2018-02-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003891749 | SCV000306450 | benign | CC2D2A-related condition | 2023-03-15 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Illumina Laboratory Services, |
RCV000295467 | SCV000447706 | uncertain significance | Familial aplasia of the vermis | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000317762 | SCV000447707 | uncertain significance | Meckel-Gruber syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000532465 | SCV000634598 | benign | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003128590 | SCV003805814 | likely benign | not provided | 2020-03-25 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |