ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8174-19A>T

gnomAD frequency: 0.00028  dbSNP: rs758233215
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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 RCV002192417 SCV002347971 likely benign Autosomal recessive polycystic kidney disease 2024-11-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494073 SCV002798083 likely benign Polycystic kidney disease 4 2022-02-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003941322 SCV004761219 likely benign PKHD1-related disorder 2022-02-03 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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