Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001498843 | SCV001703596 | likely benign | not provided | 2023-09-10 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001498843 | SCV004156972 | benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | ASB10: BS1, BS2 |
Prevention |
RCV003915009 | SCV004733797 | likely benign | ASB10-related condition | 2024-01-10 | 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). |
OMIM | RCV000043658 | SCV000071680 | pathogenic | Glaucoma 1, open angle, F | 2012-03-15 | no assertion criteria provided | literature only | |
Casey Eye Institute Glaucoma Genetics Lab | RCV000043658 | SCV000118558 | not provided | Glaucoma 1, open angle, F | no assertion provided | not provided |