ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.1623+29T>C

gnomAD frequency: 0.75160  dbSNP: rs1169304
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001701672 SCV001933073 benign Maturity-onset diabetes of the young type 3 2021-08-10 criteria provided, single submitter clinical testing
GeneDx RCV001711291 SCV001943110 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002464118 SCV002605479 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. Sufficient evidence is found to confer the association of this particular variant rs1169304 with MODY3.
Breakthrough Genomics, Breakthrough Genomics RCV001711291 SCV005234409 benign not provided criteria provided, single submitter not provided
ITMI RCV000122364 SCV000083915 not provided not specified 2013-09-19 no assertion provided reference population

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