ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3060A>G (p.Arg1020=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003134941 SCV003808442 uncertain significance Polycystic kidney disease 4 2022-03-17 criteria provided, single submitter clinical testing
Invitae RCV003611628 SCV004551959 likely benign Autosomal recessive polycystic kidney disease 2023-10-12 criteria provided, single submitter clinical testing

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