ClinVar Miner

Submissions for variant NM_003590.5(CUL3):c.1207-26A>G

dbSNP: rs199469650
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000023252 SCV000044543 pathogenic Pseudohypoaldosteronism type 2E 2012-01-22 no assertion criteria provided literature only
Richard Lifton Laboratory, Yale University School of Medicine RCV000128488 SCV000119138 pathogenic Pseudohypoaldosteronism type 2A no assertion criteria provided not provided Converted during submission to Pathogenic.

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