ClinVar Miner

Submissions for variant NM_005710.2(PQBP1):c.451_452AG[5] (p.Glu154fs) (rs606231193)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000011728 SCV000031960 pathogenic Renpenning syndrome 1 2007-01-01 no assertion criteria provided literature only
Codex Genetics Limited RCV000011728 SCV000996000 pathogenic Renpenning syndrome 1 2019-02-28 no assertion criteria provided provider interpretation

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