ClinVar Miner

Submissions for variant NM_024665.7(TBL1XR1):c.1018_1021del (p.Arg340fs)

dbSNP: rs1715100386
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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 RCV001262855 SCV001440880 likely pathogenic Pierpont syndrome 2019-01-01 criteria provided, single submitter clinical testing

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