ClinVar Miner

Submissions for variant NM_015192.4(PLCB1):c.3423+24A>C

gnomAD frequency: 0.24849  dbSNP: rs2294598
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001637219 SCV001849129 benign not provided 2020-11-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788651 SCV002030017 benign Developmental and epileptic encephalopathy, 12 2021-09-05 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004594417 SCV005087749 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 40% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 37. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001637219 SCV005311789 benign not provided criteria provided, single submitter not provided

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