ClinVar Miner

Submissions for variant NM_000490.5(AVP):c.131G>T (p.Cys44Phe)

dbSNP: rs1057516192
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000408826 SCV000484919 likely pathogenic Neurohypophyseal diabetes insipidus no assertion criteria provided clinical testing

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