ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1980T>G (p.Pro660=)

gnomAD frequency: 0.00002  dbSNP: rs1379958414
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002140256 SCV002455843 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-10-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002275352 SCV002563612 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing SCN1A: BP4, BP7

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