ClinVar Miner

Submissions for variant NM_000054.6(AVPR2):c.310C>T (p.Arg104Cys) (rs104894760)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000011600 SCV000031832 pathogenic Nephrogenic diabetes insipidus, X-linked 2001-01-01 no assertion criteria provided literature only
Integrated Genetics/Laboratory Corporation of America RCV000029388 SCV000052036 not provided Nephrogenic diabetes insipidus 2015-10-02 no assertion provided clinical testing

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