ClinVar Miner

Submissions for variant NM_006593.4(TBR1):c.1250C>A (p.Ser417Ter)

dbSNP: rs2468098938
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV002468806 SCV002764928 pathogenic Autism, susceptibility to, 5 2021-06-29 criteria provided, single submitter clinical testing

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