ClinVar Miner

Submissions for variant NM_001032221.6(STXBP1):c.87+19T>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003619151 SCV004564541 likely benign Developmental and epileptic encephalopathy, 4 2023-10-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005101437 SCV005786421 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-11-26 criteria provided, single submitter clinical testing

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