ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.4920A>G (p.Val1640=) (rs142465959)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000248500 SCV000229578 likely benign not specified 2015-11-02 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000248500 SCV000315807 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000466600 SCV000557654 benign Autosomal recessive polycystic kidney disease 2016-08-21 criteria provided, single submitter clinical testing

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