ClinVar Miner

Submissions for variant NM_000718.4(CACNA1B):c.2986_3000del (p.Thr996_Glu1000del)

dbSNP: rs145816559
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988321 SCV001137990 benign Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001720270 SCV001948092 benign not provided 2021-03-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001720270 SCV002406294 benign not provided 2025-02-04 criteria provided, single submitter clinical testing

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