ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2141-4C>G

gnomAD frequency: 0.00001  dbSNP: rs1042054004
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599094 SCV000710555 uncertain significance not provided 2018-02-14 criteria provided, single submitter clinical testing The c.2141-4C>G variant in the PKHD1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. Although this variant may reduce the quality of the splice acceptor site, splice prediction algorithms are inconclusive about the effect of this deletion on splicing. The c.2141-4C>G variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.2141-4C>G as a variant of uncertain significance.
Invitae RCV001276780 SCV004535712 likely benign Autosomal recessive polycystic kidney disease 2024-01-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276780 SCV001463319 uncertain significance Autosomal recessive polycystic kidney disease 2020-09-16 no assertion criteria provided clinical testing

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