ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8364C>T (p.Thr2788=)

gnomAD frequency: 0.00009  dbSNP: rs777017196
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731738 SCV000859587 uncertain significance not provided 2018-02-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001451525 SCV001655155 likely benign Autosomal recessive polycystic kidney disease 2024-02-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892640 SCV004715918 likely benign PKHD1-related disorder 2022-10-20 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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