ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.662A>G (p.Tyr221Cys) (rs1554223332)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000505612 SCV000798370 uncertain significance Autosomal recessive polycystic kidney disease 2018-03-08 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000505612 SCV000599845 likely pathogenic Autosomal recessive polycystic kidney disease 2017-04-20 no assertion criteria provided clinical testing

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