ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.629G>A (p.Cys210Tyr)

dbSNP: rs2092673697
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001292762 SCV001481407 likely pathogenic Polycystic kidney disease, adult type 2020-09-11 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported in an individual with polycystic kidney disease [PMID 22383692]
Fulgent Genetics, Fulgent Genetics RCV001292762 SCV005640635 likely pathogenic Polycystic kidney disease, adult type 2024-05-01 criteria provided, single submitter clinical testing

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