ClinVar Miner

Submissions for variant NM_000486.6(AQP2):c.258C>T (p.Ala86=)

gnomAD frequency: 0.00003  dbSNP: rs780540045
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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 RCV000932782 SCV001078469 likely benign not provided 2023-08-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502853 SCV002809171 likely benign Diabetes insipidus, nephrogenic, autosomal 2022-02-01 criteria provided, single submitter clinical testing

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