ClinVar Miner

Submissions for variant NM_017415.3(KLHL3):c.1582C>T (p.Arg528Cys)

dbSNP: rs199469635
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity Omics RCV000023479 SCV002016812 likely pathogenic Pseudohypoaldosteronism type 2D 2021-08-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000023479 SCV002778505 pathogenic Pseudohypoaldosteronism type 2D 2022-03-11 criteria provided, single submitter clinical testing
OMIM RCV000023479 SCV000044770 pathogenic Pseudohypoaldosteronism type 2D 2012-03-11 no assertion criteria provided literature only
Richard Lifton Laboratory, Yale University School of Medicine RCV000128518 SCV000119168 pathogenic Pseudohypoaldosteronism type 2A no assertion criteria provided not provided Converted during submission to Pathogenic.

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