ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8141G>A (p.Arg2714Gln)

gnomAD frequency: 0.00021  dbSNP: rs371665285
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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 RCV001036025 SCV001199368 likely benign Autosomal recessive polycystic kidney disease 2025-01-24 criteria provided, single submitter clinical testing
GeneDx RCV002269330 SCV002553003 uncertain significance not provided 2022-07-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005036303 SCV005671730 uncertain significance Polycystic kidney disease 4 2024-04-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001036025 SCV001455246 uncertain significance Autosomal recessive polycystic kidney disease 2018-06-13 no assertion criteria provided clinical testing

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