ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.12163G>A (p.Gly4055Arg)

gnomAD frequency: 0.00001  dbSNP: rs778545068
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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) RCV000731739 SCV000859588 uncertain significance not provided 2018-02-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001526745 SCV001737227 uncertain significance Polycystic kidney disease 4 2021-05-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001526745 SCV002798249 uncertain significance Polycystic kidney disease 4 2022-02-01 criteria provided, single submitter clinical testing

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