Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000555845 | SCV000654726 | benign | Hereditary sensory and autonomic neuropathy type 7; Familial episodic pain syndrome with predominantly lower limb involvement | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001560102 | SCV001782442 | likely benign | not provided | 2023-02-28 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Ce |
RCV001560102 | SCV002544796 | benign | not provided | 2024-10-01 | criteria provided, single submitter | clinical testing | SCN11A: BS1, BS2 |
Clinical Genetics, |
RCV001700157 | SCV001922805 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001700157 | SCV001957080 | benign | not specified | no assertion criteria provided | clinical testing | ||
Prevention |
RCV003915622 | SCV004729730 | benign | SCN11A-related disorder | 2024-02-14 | no assertion criteria provided | 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). |