ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.657C>G (p.Ser219=)

dbSNP: rs148713761
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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) RCV000597746 SCV000706428 uncertain significance not provided 2018-03-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000597746 SCV002366367 likely benign not provided 2023-12-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900336 SCV004710818 likely benign HNF1B-related disorder 2023-12-15 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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