ClinVar Miner

Submissions for variant NM_001136035.4(TRMT1):c.312del (p.Lys105fs)

dbSNP: rs2019321826
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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 RCV001262708 SCV001440677 pathogenic Intellectual developmental disorder, autosomal recessive 68 2019-01-01 criteria provided, single submitter clinical testing

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