Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000250401 | SCV000316059 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Labcorp Genetics |
RCV000462936 | SCV000560330 | likely benign | Birt-Hogg-Dube syndrome | 2025-01-23 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000250401 | SCV000603721 | likely benign | not specified | 2016-11-02 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV004786637 | SCV005404814 | benign | Birt-Hogg-Dube syndrome 1 | 2024-09-04 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant is intronic and is not expected to impact mRNA splicing. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance. |