ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5235C>T (p.Phe1745=)

gnomAD frequency: 0.00028  dbSNP: rs187667255
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082991 SCV000629920 likely benign Autosomal recessive polycystic kidney disease 2024-01-28 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000597437 SCV000707899 uncertain significance not provided 2017-04-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925601 SCV004739160 likely benign PKHD1-related condition 2019-04-15 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001082991 SCV002078087 likely benign Autosomal recessive polycystic kidney disease 2017-05-11 no assertion criteria provided clinical testing

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