ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9182_9183insATTAGTGACA (p.Asn3062fs)

dbSNP: rs1582441668
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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 Munich, Klinikum Rechts Der Isar, TU München RCV000995602 SCV001149875 pathogenic Autosomal recessive polycystic kidney disease 2018-04-23 criteria provided, single submitter clinical testing

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