ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2532C>T (p.Tyr844=)

gnomAD frequency: 0.00017  dbSNP: rs150202544
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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 RCV000868965 SCV001010352 likely benign Autosomal recessive polycystic kidney disease 2024-03-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501286 SCV002806284 likely benign Polycystic kidney disease 4 2021-09-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000868965 SCV002081027 likely benign Autosomal recessive polycystic kidney disease 2020-11-30 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003948149 SCV004764911 likely benign PKHD1-related disorder 2021-07-19 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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