ClinVar Miner

Submissions for variant NM_001394998.1(TANC2):c.1048_1060dup (p.Leu354fs)

dbSNP: rs2146269292
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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, University of Leipzig Medical Center RCV001785326 SCV002026315 pathogenic Intellectual developmental disorder with autistic features and language delay, with or without seizures 2020-10-21 criteria provided, single submitter clinical testing

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