ClinVar Miner

Submissions for variant NM_015192.4(PLCB1):c.3279-35A>G

gnomAD frequency: 0.97292  dbSNP: rs2327090
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV001665156 SCV005311785 benign not provided criteria provided, single submitter not provided
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004594465 SCV005087348 benign not specified 2024-07-15 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 100% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 93. Only high quality variants are reported.
Genome-Nilou Lab RCV001788713 SCV002030015 benign Developmental and epileptic encephalopathy, 12 2021-09-05 criteria provided, single submitter clinical testing
GeneDx RCV001665156 SCV001874849 benign not provided 2020-11-20 criteria provided, single submitter clinical testing

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