Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000223986 | SCV000281017 | likely benign | not provided | 2016-04-12 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Eurofins Ntd Llc |
RCV000362252 | SCV000336960 | benign | not specified | 2015-11-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000223986 | SCV001030157 | likely benign | not provided | 2024-01-20 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000223986 | SCV004142469 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | SARM1: BS2; SLC46A1: BP4, BS2 |
Prevention |
RCV003919905 | SCV004736622 | likely benign | SLC46A1-related condition | 2019-09-06 | 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). |