ClinVar Miner

Submissions for variant NM_001289104.2(PRKCSH):c.300C>A (p.Cys100Ter)

dbSNP: rs756238324
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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 RCV001280825 SCV001468166 likely pathogenic Polycystic liver disease 1 2020-01-03 no assertion criteria provided clinical testing

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