Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000956550 | SCV001103316 | benign | not provided | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000956550 | SCV004157012 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | KMT2C: BP4, BS1 |
Prevention |
RCV003945089 | SCV004772561 | benign | KMT2C-related condition | 2019-07-10 | 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). |
ITMI | RCV000121512 | SCV000085706 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |