Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725834 | SCV000339761 | uncertain significance | not provided | 2016-02-12 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000764962 | SCV000896137 | uncertain significance | Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome | 2022-02-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002515888 | SCV003248874 | likely benign | Hajdu-Cheney syndrome | 2024-01-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003892113 | SCV004716677 | likely benign | NOTCH2-related condition | 2021-10-11 | 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). |
ITMI | RCV000121715 | SCV000085913 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |