ClinVar Miner

Submissions for variant NM_000742.4(CHRNA2):c.1126C>T (p.Arg376Trp)

dbSNP: rs1018084204
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001209557 SCV001380997 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2024-01-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001815352 SCV002063180 uncertain significance not provided 2021-10-01 criteria provided, single submitter clinical testing
OMIM RCV000625719 SCV000746224 pathogenic Seizures, benign familial infantile, 6 2018-04-19 no assertion criteria provided literature only

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