ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.10074T>C (p.Asp3358=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002474094 SCV002770141 uncertain significance not provided 2022-06-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV002571507 SCV003444587 likely benign Autosomal recessive polycystic kidney disease 2023-12-12 criteria provided, single submitter clinical testing

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