ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2980C>T (p.Arg994Trp)

gnomAD frequency: 0.00001  dbSNP: rs757854282
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Biology Laboratory, Fundació Puigvert RCV000449535 SCV001425226 likely pathogenic Autosomal recessive polycystic kidney disease 2020-02-01 criteria provided, single submitter research
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000449535 SCV000537807 likely pathogenic Autosomal recessive polycystic kidney disease no assertion criteria provided clinical testing

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