Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000605978 | SCV000713610 | benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | p.Leu25Phe in exon 2 of SLITRK6: This variant is not expected to have clinical s ignificance because it has been identified in 2.59% (294/11348) of Latino chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs12863734). |
Gene |
RCV000993089 | SCV000717214 | benign | not provided | 2019-03-04 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000993089 | SCV001145820 | benign | not provided | 2019-07-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000993089 | SCV002460380 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003980129 | SCV004792672 | benign | SLITRK6-related condition | 2019-07-15 | 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). |