Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Genomic Medicine |
RCV000736090 | SCV000864357 | benign | not specified | 2017-04-19 | criteria provided, single submitter | clinical testing | BS1,BS2; This alteration has an allele frequency that is greater than expected for the associated disease, and was seen in a healthy adult where full penetrance of the disorder is expected at an early age. |
Invitae | RCV000974385 | SCV001122207 | likely benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000974385 | SCV003916945 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | ZSWIM6: BS2 |
Prevention |
RCV003918230 | SCV004736345 | benign | ZSWIM6-related condition | 2019-08-19 | 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). |