ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.1534+10C>T

gnomAD frequency: 0.00007  dbSNP: rs368168569
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002087308 SCV002326443 likely benign not provided 2024-01-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486803 SCV002801626 likely benign Renal cysts and diabetes syndrome; Type 2 diabetes mellitus; Nonpapillary renal cell carcinoma 2021-10-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004753482 SCV005349777 likely benign HNF1B-related disorder 2024-05-02 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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