ClinVar Miner

Submissions for variant NM_001394998.1(TANC2):c.3418C>T (p.Arg1140Ter)

dbSNP: rs2048464266
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV001182003 SCV001347309 pathogenic INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES 2020-08-06 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001261835 SCV001439164 likely pathogenic Autism spectrum disorder no assertion criteria provided research

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