ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8272G>C (p.Ala2758Pro)

dbSNP: rs2092204988
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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 RCV001280906 SCV001468252 uncertain significance Polycystic kidney disease, adult type 2020-03-25 no assertion criteria provided clinical testing

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