ClinVar Miner

Submissions for variant NM_006922.4(SCN3A):c.5306T>C (p.Val1769Ala)

dbSNP: rs1553517274
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622981 SCV000741484 likely pathogenic Inborn genetic diseases 2016-06-06 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000625714 SCV002044418 likely pathogenic Developmental and epileptic encephalopathy, 62 2021-12-21 criteria provided, single submitter research
OMIM RCV000625714 SCV000746214 pathogenic Developmental and epileptic encephalopathy, 62 2020-11-17 no assertion criteria provided literature only
Channelopathy-Associated Epilepsy Research Center RCV003992349 SCV004809322 not provided Early infantile epileptic encephalopathy with suppression bursts no assertion provided literature only

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