ClinVar Miner

Submissions for variant NM_015192.4(PLCB1):c.178-15G>A

gnomAD frequency: 0.01196  dbSNP: rs6055775
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000307591 SCV000435358 likely benign Early Infantile Epileptic Encephalopathy, Autosomal Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001590991 SCV001823987 likely benign not provided 2020-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002057756 SCV002356174 benign Developmental and epileptic encephalopathy, 12 2024-01-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001590991 SCV005207300 likely benign not provided criteria provided, single submitter not provided

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