ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3262_3263insT (p.Glu1088fs)

dbSNP: rs1596566156
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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 RCV001029932 SCV001192728 likely pathogenic Polycystic kidney disease, adult type 2019-11-06 no assertion criteria provided clinical testing

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