ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6683A>G (p.Tyr2228Cys)

dbSNP: rs1596550613
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000992594 SCV001144998 uncertain significance not provided 2018-12-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001280833 SCV002789135 uncertain significance Polycystic kidney disease, adult type 2021-11-18 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001280833 SCV001468175 likely pathogenic Polycystic kidney disease, adult type 2020-01-08 no assertion criteria provided clinical testing

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