ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2853+5G>C

dbSNP: rs1287693928
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV004546901 SCV005040889 uncertain significance Polycystic kidney disease, adult type 2022-02-14 criteria provided, single submitter clinical testing ACMG Criteria: PS1_SUP, PM2_SUP, PP3, PP4 (ACMG Version 3)

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