ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.10744G>A (p.Glu3582Lys)

gnomAD frequency: 0.00013  dbSNP: rs148300854
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179596 SCV000231865 uncertain significance not provided 2014-12-02 criteria provided, single submitter clinical testing
Invitae RCV001407262 SCV001609229 likely benign Autosomal recessive polycystic kidney disease 2023-12-13 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000179596 SCV002542177 uncertain significance not provided 2021-04-26 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003129797 SCV003808415 uncertain significance Polycystic kidney disease 4 2019-10-11 criteria provided, single submitter clinical testing

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