Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825054 | SCV000966256 | benign | not specified | 2018-05-18 | criteria provided, single submitter | clinical testing | p.Ser259Thr in exon 7 of BCS1L: This variant is classified as likely benign beca use it has been identified in 0.5% (109/23540) of African chromosomes by the Gen ome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs7772 9067). ACMG/AMP Criteria applied: BA1; BP4. |
Labcorp Genetics |
RCV000903722 | SCV001048202 | likely benign | not provided | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000903722 | SCV001945183 | likely benign | not provided | 2020-11-18 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000903722 | SCV004225984 | uncertain significance | not provided | 2022-07-21 | criteria provided, single submitter | clinical testing | PM2 |
Natera, |
RCV001276430 | SCV001462705 | likely benign | GRACILE syndrome | 2020-04-25 | no assertion criteria provided | clinical testing | |
Prevention |
RCV004540123 | SCV004778005 | likely benign | BCS1L-related disorder | 2023-01-25 | no assertion criteria provided | 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). |