ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11078C>A (p.Ser3693Ter)

dbSNP: rs745912756
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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 RCV000505553 SCV000599841 likely pathogenic Polycystic kidney disease, adult type 2019-12-11 no assertion criteria provided clinical testing

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