ClinVar Miner

Submissions for variant NM_001032221.6(STXBP1):c.1168A>G (p.Ile390Val)

dbSNP: rs1554778420
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001370121 SCV001566586 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2021-09-02 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000656248 SCV004013346 uncertain significance not provided 2023-06-29 criteria provided, single submitter clinical testing PM2
Institute of Human Genetics, University of Leipzig Medical Center RCV004760680 SCV005368464 uncertain significance Developmental and epileptic encephalopathy, 4 2023-06-27 criteria provided, single submitter clinical testing Criteria applied: PS4_SUP,PM2_SUP,PP2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV000656248 SCV000778208 likely pathogenic not provided 2016-07-07 no assertion criteria provided clinical testing

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