ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11098C>T (p.Arg3700Cys)

dbSNP: rs758831274
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV003991295 SCV004808624 uncertain significance Polycystic kidney disease, adult type 2022-04-28 criteria provided, single submitter clinical testing ACMG Criteria: PM2_SUP, PP3 (ACMG Version 3); Compound Heterozygote
Fulgent Genetics, Fulgent Genetics RCV003991295 SCV005638833 uncertain significance Polycystic kidney disease, adult type 2024-06-14 criteria provided, single submitter clinical testing

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