ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.11400G>A (p.Gly3800=)

gnomAD frequency: 0.00026  dbSNP: rs149427926
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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) RCV000273670 SCV000340771 uncertain significance not provided 2016-03-29 criteria provided, single submitter clinical testing
Invitae RCV001079830 SCV000819753 benign Autosomal recessive polycystic kidney disease 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000273670 SCV004163589 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing PKHD1: BP4, BP7
Natera, Inc. RCV001079830 SCV001453250 likely benign Autosomal recessive polycystic kidney disease 2020-05-01 no assertion criteria provided clinical testing

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