ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5372C>T (p.Pro1791Leu) (rs886042677)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000365257 SCV000800533 uncertain significance Autosomal recessive polycystic kidney disease 2017-05-12 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725304 SCV000335884 likely pathogenic not provided 2016-04-13 criteria provided, single submitter clinical testing

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