ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8776C>T (p.Arg2926Trp)

gnomAD frequency: 0.00002  dbSNP: rs757650951
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732006 SCV000859881 uncertain significance not provided 2018-02-22 criteria provided, single submitter clinical testing
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research RCV000732006 SCV001422344 uncertain significance not provided 2019-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485909 SCV002792059 uncertain significance Polycystic kidney disease 4 2021-10-15 criteria provided, single submitter clinical testing

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