ClinVar Miner

Submissions for variant NM_175914.5(HNF4A):c.50-4758A>G

dbSNP: rs946477017
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003957084 SCV004768767 likely benign HNF4A-related disorder 2020-03-10 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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