ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3372C>T (p.Ala1124=) (rs75510884)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000250920 SCV000305724 benign not specified criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000250920 SCV000592762 benign not specified 2016-04-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000576596 SCV000604693 benign Polycystic kidney disease, adult type 2018-07-23 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576596 SCV000677408 benign Polycystic kidney disease, adult type 2017-06-02 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000250920 SCV000700385 benign not specified 2017-02-01 criteria provided, single submitter clinical testing
Molecular Genetics of Inherited Kidney Disorders Laboratory,Garvan Institute of Medical Research RCV001254291 SCV001430193 benign Polycystic kidney disease, autosomal dominant 2019-01-01 criteria provided, single submitter research

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