ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.6741C>G (p.Cys2247Trp)

gnomAD frequency: 0.00010  dbSNP: rs750190287
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001085990 SCV000818391 likely benign Autosomal recessive polycystic kidney disease 2024-01-17 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000728703 SCV000856308 uncertain significance not provided 2018-09-18 criteria provided, single submitter clinical testing

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