ClinVar Miner

Submissions for variant NM_001163435.3(TBCK):c.1532G>A (p.Arg511His)

dbSNP: rs869320711
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000210879 SCV000267184 pathogenic Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 2016-05-19 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV000755063 SCV000882881 likely pathogenic Syndromic Infantile Encephalopathy 2016-04-07 no assertion criteria provided research

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