ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.717C>A (p.Ala239=)

dbSNP: rs759923734
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000658884 SCV000780684 likely benign not provided 2020-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001414812 SCV001616955 likely benign Early infantile epileptic encephalopathy with suppression bursts 2023-05-27 criteria provided, single submitter clinical testing

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