ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.4209_4232del (p.Gly1404_Gly1411del)

dbSNP: rs1802029655
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics, Children's Memorial Health Institute RCV001257505 SCV001434241 likely pathogenic Autosomal recessive polycystic kidney disease 2020-09-30 criteria provided, single submitter clinical testing

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