ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5879C>G (p.Thr1960Arg)

dbSNP: rs534831346
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Diagnosis of Genetic Disease, Università degli Studi di Napoli Federico II RCV001507097 SCV001712068 likely pathogenic Caroli disease 2021-05-05 criteria provided, single submitter clinical testing

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