ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2020_2025dup (p.Gly674_Leu675dup)

dbSNP: rs1567212718
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004760758 SCV005374259 uncertain significance Polycystic kidney disease, adult type 2024-09-22 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000722194 SCV000853325 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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