ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=) (rs137925439)

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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 RCV000322539 SCV000344233 uncertain significance not provided 2018-08-29 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000381594 SCV000464081 uncertain significance Autosomal recessive polycystic kidney disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000381594 SCV000557638 benign Autosomal recessive polycystic kidney disease 2016-09-04 criteria provided, single submitter clinical testing

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