ClinVar Miner

Submissions for variant NM_015192.4(PLCB1):c.1581+15C>T

gnomAD frequency: 0.02283  dbSNP: rs79284104
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247816 SCV000312444 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000344480 SCV000435373 likely benign Early Infantile Epileptic Encephalopathy, Autosomal Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001636799 SCV001850839 benign not provided 2020-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058257 SCV002423971 benign Developmental and epileptic encephalopathy, 12 2025-02-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001636799 SCV005207309 likely benign not provided criteria provided, single submitter not provided

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