ClinVar Miner

Submissions for variant NM_000054.6(AVPR2):c.614A>G (p.Tyr205Cys) (rs104894749)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029393 SCV000052041 pathogenic Nephrogenic diabetes insipidus 2011-08-18 criteria provided, single submitter curation Converted during submission to Pathogenic.
OMIM RCV000011585 SCV000031817 pathogenic Nephrogenic diabetes insipidus, X-linked 1992-10-01 no assertion criteria provided literature only

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