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: 7
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV000228897 SCV000290122 benign Developmental and epileptic encephalopathy, 12 2025-02-02 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 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
Breakthrough Genomics, Breakthrough Genomics RCV000712700 SCV005207313 likely benign not provided criteria provided, single submitter not provided
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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