ClinVar Miner

Submissions for variant NM_001375462.1(LPP):c.1354C>T (p.Arg452Ter)

gnomAD frequency: 0.00006  dbSNP: rs202115941
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329432 SCV001520873 pathogenic Acute myeloid leukemia 2019-08-06 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238349 SCV002009671 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing

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