ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.306G>A (p.Glu102=)

gnomAD frequency: 0.00004  dbSNP: rs759126073
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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 RCV002179887 SCV002342814 likely benign Autosomal recessive polycystic kidney disease 2025-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005042713 SCV005673193 likely benign Polycystic kidney disease 4 2024-05-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004749840 SCV005364471 likely benign PKHD1-related disorder 2024-07-19 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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