ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.1849T>C (p.Tyr617His)

gnomAD frequency: 0.00010  dbSNP: rs141177165
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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) RCV000176124 SCV000227726 uncertain significance not provided 2017-07-05 criteria provided, single submitter clinical testing
Invitae RCV001082977 SCV001002597 likely benign Autosomal recessive polycystic kidney disease 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000176124 SCV001985900 uncertain significance not provided 2020-01-30 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001082977 SCV001463509 uncertain significance Autosomal recessive polycystic kidney disease 2018-05-21 no assertion criteria provided clinical testing

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