ClinVar Miner

Submissions for variant NM_001032382.2(PQBP1):c.461_462del (p.Glu154fs)

dbSNP: rs606231193
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000011728 SCV005848203 pathogenic Renpenning syndrome 2025-02-19 criteria provided, single submitter clinical testing This variant has been identified by standard clinical testing. Selected ACMG criteria: Pathogenic (I):PP5;PM2;PS3;PVS1
OMIM RCV000011728 SCV000031960 pathogenic Renpenning syndrome 2007-01-01 no assertion criteria provided literature only
Codex Genetics Limited RCV000011728 SCV000996000 pathogenic Renpenning syndrome 2019-02-28 no assertion criteria provided provider interpretation

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