ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.12147G>A (p.Glu4049=)

dbSNP: rs1561967407
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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) RCV000731123 SCV000858900 uncertain significance not provided 2018-01-02 criteria provided, single submitter clinical testing
Invitae RCV001494344 SCV001698997 likely benign Autosomal recessive polycystic kidney disease 2023-06-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003983190 SCV004797958 likely benign PKHD1-related condition 2022-09-28 criteria provided, single submitter 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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