ClinVar Miner

Submissions for variant NM_001377142.1(PLCB4):c.687-3C>G

dbSNP: rs2148305044
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University Hospital Muenster RCV002204555 SCV002496153 uncertain significance Auriculocondylar syndrome 2 2020-01-26 criteria provided, single submitter clinical testing ACMG categories: PM2,PP3

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