ClinVar Miner

Submissions for variant NM_015192.4(PLCB1):c.1679-17G>A

gnomAD frequency: 0.00372  dbSNP: rs139542242
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001653010 SCV001871083 likely benign not provided 2021-01-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073051 SCV002448819 benign Developmental and epileptic encephalopathy, 12 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001653010 SCV005207310 likely benign not provided criteria provided, single submitter not provided

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