ClinVar Miner

Submissions for variant NM_000486.6(AQP2):c.64C>G (p.Leu22Val)

gnomAD frequency: 0.00001  dbSNP: rs104894336
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000019416 SCV005637255 uncertain significance Diabetes insipidus, nephrogenic, autosomal 2024-04-25 criteria provided, single submitter clinical testing
OMIM RCV000019416 SCV000039706 pathogenic Diabetes insipidus, nephrogenic, autosomal 1997-10-01 no assertion criteria provided literature only

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