ClinVar Miner

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

gnomAD frequency: 0.39324  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
Breakthrough Genomics, Breakthrough Genomics RCV001637792 SCV005311769 benign not provided criteria provided, single submitter not provided
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.
Genome-Nilou Lab RCV001788662 SCV002030009 benign Developmental and epileptic encephalopathy, 12 2021-09-05 criteria provided, single submitter clinical testing
GeneDx RCV001637792 SCV001848677 benign not provided 2020-11-20 criteria provided, single submitter clinical testing

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