ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3183C>T (p.Val1061=)

gnomAD frequency: 0.00005  dbSNP: rs759939735
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001426869 SCV001629530 likely benign Autosomal recessive polycystic kidney disease 2024-01-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488239 SCV002801112 likely benign Polycystic kidney disease 4 2022-01-18 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001796488 SCV002036648 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001796488 SCV002037995 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001426869 SCV002081000 likely benign Autosomal recessive polycystic kidney disease 2021-08-26 no assertion criteria provided clinical testing

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