ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7992C>T (p.Ile2664=)

dbSNP: rs537012440
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002294 SCV001160179 benign Polycystic kidney disease, adult type 2018-12-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001002294 SCV002807983 likely benign Polycystic kidney disease, adult type 2021-10-29 criteria provided, single submitter clinical testing

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