ClinVar Miner

Submissions for variant NM_001394998.1(TANC2):c.1938G>A (p.Trp646Ter)

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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 RCV004759539 SCV005368179 pathogenic Intellectual developmental disorder with autistic features and language delay, with or without seizures 2024-07-04 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2,PS2_MOD

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