ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2853C>A (p.Thr951=)

dbSNP: rs139815340
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Cologne University RCV001027654 SCV001167349 uncertain significance Autosomal recessive polycystic kidney disease no assertion criteria provided clinical testing was found to be compound-heterozygous with c.370C>T; p.Arg124*

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