ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.6979G>A (p.Glu2327Lys)

dbSNP: rs2132094752
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001391296 SCV001593257 likely benign Intellectual disability 2021-05-11 criteria provided, single submitter clinical testing missense variant inherited from healthy parent
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV001843587 SCV002102970 uncertain significance Developmental disorder 2021-07-13 criteria provided, single submitter clinical testing

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