ClinVar Miner

Submissions for variant NM_015192.4(PLCB1):c.1889-43G>A

gnomAD frequency: 0.98398  dbSNP: rs993670
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001722676 SCV001949367 benign not provided 2020-11-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788832 SCV002030010 benign Developmental and epileptic encephalopathy, 12 2021-09-05 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004594569 SCV005087326 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.
Breakthrough Genomics, Breakthrough Genomics RCV001722676 SCV005311771 benign not provided criteria provided, single submitter not provided

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