ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.713+14C>T

gnomAD frequency: 0.00001  dbSNP: rs193922601
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030508 SCV000053179 uncertain Maturity-onset diabetes of the young type 3 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002463619 SCV002605007 benign Maturity onset diabetes mellitus in young criteria provided, single submitter research Mutations in HNF1A gene can predispose to MODY3. It is associated with both micro and macrovascular complications of diabetes, especially cardiovascular complications. Associated with glucosuria. May respond well to sulfonylureas. However, more evidence is required to confer the association of this particular variant rs193922601 with MODY3.
Fulgent Genetics, Fulgent Genetics RCV002504836 SCV002815254 uncertain significance Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus; Hepatic adenomas, familial; Nonpapillary renal cell carcinoma 2022-04-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002513267 SCV003275630 likely benign not provided 2023-08-27 criteria provided, single submitter clinical testing

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