ClinVar Miner

Submissions for variant NM_000486.6(AQP2):c.459C>T (p.Arg153=)

gnomAD frequency: 0.00001  dbSNP: rs201617819
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000908394 SCV001053151 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276975 SCV001463672 uncertain significance Nephrogenic diabetes insipidus 2020-01-24 no assertion criteria provided clinical testing

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