ClinVar Miner

Submissions for variant NM_015192.4(PLCB1):c.3141A>G (p.Glu1047=)

dbSNP: rs1983595733
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001456744 SCV001660530 likely benign Developmental and epileptic encephalopathy, 12 2020-10-15 criteria provided, single submitter clinical testing

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