Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000993037 | SCV002437494 | likely benign | not provided | 2025-09-25 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000993037 | SCV001826209 | likely benign | not provided | 2020-12-16 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV001335154 | SCV001528237 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 91 | 2018-02-08 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
| Athena Diagnostics | RCV000993037 | SCV001145735 | uncertain significance | not provided | 2019-08-02 | criteria provided, single submitter | clinical testing | |
| Laboratory for Molecular Medicine, |
RCV000151842 | SCV000200318 | likely benign | not specified | 2018-04-11 | criteria provided, single submitter | clinical testing | p.Val41Ile in exon 2C of SERPINB6: This variant is classified as likely benign b ecause it has been identified in 0.3% (29/10152) of Ashkenazi Jewish chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; d bSNP rs140220538). ACMG/AMP Criteria applied: BS1 |
| Prevention |
RCV004757137 | SCV005351077 | likely benign | SERPINB6-related disorder | 2024-09-06 | 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). |