ClinVar Miner

Submissions for variant NM_015192.4(PLCB1):c.1679-29C>T

gnomAD frequency: 0.38615  dbSNP: rs1015170
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001637792 SCV001848677 benign not provided 2020-11-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788662 SCV002030009 benign Developmental and epileptic encephalopathy, 12 2021-09-05 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004594422 SCV005087387 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 77% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 72. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001637792 SCV005311769 benign not provided criteria provided, single submitter not provided

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