ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.528-17dup

dbSNP: rs753686281
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731826 SCV000859679 uncertain significance not provided 2018-02-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001512192 SCV001719558 benign Autosomal recessive polycystic kidney disease 2024-01-02 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003492158 SCV004236083 uncertain significance Polycystic kidney disease 4 2023-05-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003947936 SCV004776326 likely benign PKHD1-related disorder 2020-02-18 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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