ClinVar Miner

Submissions for variant NM_015192.4(PLCB1):c.246+12A>G

gnomAD frequency: 0.00073  dbSNP: rs200984500
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002178619 SCV002474651 benign Developmental and epileptic encephalopathy, 12 2024-10-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002178619 SCV005664058 uncertain significance Developmental and epileptic encephalopathy, 12 2024-06-20 criteria provided, single submitter clinical testing

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