ClinVar Miner

Submissions for variant NM_001394998.1(TANC2):c.1441+1G>A

dbSNP: rs2045256930
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV004559915 SCV005049403 pathogenic Intellectual developmental disorder with autistic features and language delay, with or without seizures 2024-02-14 criteria provided, single submitter clinical testing
OMIM RCV001182002 SCV001347307 pathogenic INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES 2020-06-18 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001261832 SCV001439161 likely pathogenic Neurodevelopmental disorder no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001261833 SCV001439162 likely pathogenic Autism spectrum disorder no assertion criteria provided research

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