ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8319G>A (p.Val2773=)

gnomAD frequency: 0.00006  dbSNP: rs374869252
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001295962 SCV001484915 likely benign Autosomal recessive polycystic kidney disease 2024-07-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480948 SCV002793135 uncertain significance Polycystic kidney disease 4 2024-04-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001295962 SCV002077984 uncertain significance Autosomal recessive polycystic kidney disease 2018-11-04 no assertion criteria provided clinical testing

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