ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9216G>A (p.Ala3072=)

gnomAD frequency: 0.00001  dbSNP: rs764734730
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001487023 SCV001691506 likely benign Autosomal recessive polycystic kidney disease 2024-02-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820185 SCV002064832 likely benign not specified 2020-10-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501672 SCV002810684 likely benign Polycystic kidney disease 4 2022-05-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001487023 SCV002077958 likely benign Autosomal recessive polycystic kidney disease 2018-10-01 no assertion criteria provided clinical testing

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