ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3310T>G (p.Ser1104Ala)

dbSNP: rs1803317608
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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 Gastroenterology and Hepatology, Radboud University Medical Center RCV001844887 SCV001877009 likely benign Autosomal dominant polycystic liver disease 2021-09-01 no assertion criteria provided research

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