ClinVar Miner

Submissions for variant NM_015175.3(NBEAL2):c.4185G>A (p.Pro1395=)

gnomAD frequency: 0.00129  dbSNP: rs115350407
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817276 SCV002071604 likely benign not specified 2017-11-02 criteria provided, single submitter clinical testing

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