ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.1573-6_1573-3del

dbSNP: rs758557229
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704621 SCV000570124 likely benign not provided 2022-11-16 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp RCV001064373 SCV001229270 likely benign Early infantile epileptic encephalopathy with suppression bursts 2023-10-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001809437 SCV002056533 uncertain significance Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing

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