ClinVar Miner

Submissions for variant NM_003590.5(CUL3):c.1605C>G (p.Phe535Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005018676 SCV005650088 uncertain significance Pseudohypoaldosteronism type 2E; Neurodevelopmental disorder with or without autism or seizures 2024-04-23 criteria provided, single submitter clinical testing

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