ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.7067C>T (p.Pro2356Leu) (rs141360909)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665022 SCV000789075 uncertain significance Autosomal recessive polycystic kidney disease 2017-01-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727569 SCV000854807 uncertain significance not provided 2018-08-30 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000665022 SCV000897292 uncertain significance Autosomal recessive polycystic kidney disease 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000727569 SCV001003588 likely benign not provided 2019-02-27 criteria provided, single submitter clinical testing

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