ClinVar Miner

Submissions for variant NM_015192.4(PLCB1):c.695+10C>G

gnomAD frequency: 0.00006  dbSNP: rs763454386
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000387419 SCV000435362 uncertain significance Early Infantile Epileptic Encephalopathy, Autosomal Recessive 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000867489 SCV001008719 likely benign Developmental and epileptic encephalopathy, 12 2023-11-27 criteria provided, single submitter clinical testing

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