ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.130+9G>A (rs367608402)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000250803 SCV000315773 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727487 SCV000709028 uncertain significance not provided 2017-05-31 criteria provided, single submitter clinical testing
Invitae RCV000727487 SCV001003788 benign not provided 2018-07-20 criteria provided, single submitter clinical testing

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