ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2289_2299del (p.Cys767fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics of Inherited Kidney Disorders Laboratory,Garvan Institute of Medical Research RCV001249128 SCV001422401 likely pathogenic not provided 2019-01-01 criteria provided, single submitter clinical testing

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