ClinVar Miner

Submissions for variant NM_000054.6(AVPR2):c.382_384del (p.Tyr128del) (rs1557100594)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622455 SCV000742568 likely pathogenic Inborn genetic diseases 2017-07-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected
Mendelics RCV000990990 SCV001142070 pathogenic Nephrogenic diabetes insipidus, X-linked 2019-05-28 criteria provided, single submitter clinical testing

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