ClinVar Miner

Submissions for variant NM_015192.4(PLCB1):c.2930+20T>G

gnomAD frequency: 0.00214  dbSNP: rs45533233
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002178675 SCV002472107 benign Developmental and epileptic encephalopathy, 12 2024-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003434447 SCV004149861 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing PLCB1: BP4, BS1

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