ClinVar Miner

Submissions for variant NM_001394998.1(TANC2):c.2856C>A (p.Tyr952Ter)

dbSNP: rs2147151004
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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 RCV001724762 SCV001950048 pathogenic Intellectual developmental disorder with autistic features and language delay, with or without seizures 2021-12-20 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed)._x000D_ Criteria applied: PVS1, PS2_MOD, PM2_SUP

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