ClinVar Miner

Submissions for variant NM_015192.4(PLCB1):c.2413+9C>T

gnomAD frequency: 0.00934  dbSNP: rs138442805
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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 RCV000117927 SCV000152203 likely benign not specified 2013-04-16 criteria provided, single submitter clinical testing
Invitae RCV000228897 SCV000290122 benign Developmental and epileptic encephalopathy, 12 2024-02-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000228897 SCV000743119 likely benign Developmental and epileptic encephalopathy, 12 2014-10-09 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712700 SCV000843220 benign not provided 2018-03-29 criteria provided, single submitter clinical testing
GeneDx RCV000712700 SCV001750661 likely benign not provided 2020-12-15 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000228897 SCV000734084 benign Developmental and epileptic encephalopathy, 12 no assertion criteria provided clinical testing

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