ClinVar Miner

Submissions for variant NM_015192.4(PLCB1):c.99+8T>C

gnomAD frequency: 0.04369  dbSNP: rs6086350
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117937 SCV000152213 benign not specified 2013-03-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000117937 SCV000312455 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000361223 SCV000435356 likely benign Early Infantile Epileptic Encephalopathy, Autosomal Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000474916 SCV000561042 benign Developmental and epileptic encephalopathy, 12 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000117937 SCV000614583 benign not specified 2017-06-23 criteria provided, single submitter clinical testing
GeneDx RCV001557714 SCV001779525 likely benign not provided 2020-12-01 criteria provided, single submitter clinical testing

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