ClinVar Miner

Submissions for variant NM_175914.5(HNF4A):c.*167T>A

gnomAD frequency: 0.01097  dbSNP: rs11574744
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000399364 SCV000433914 likely benign Familial hyperinsulinism 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000288947 SCV000433915 likely benign Maturity-onset diabetes of the young type 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Eurofins Ntd Llc (ga) RCV000732365 SCV000860317 benign not specified 2018-03-30 criteria provided, single submitter clinical testing
GeneDx RCV001590988 SCV001822470 likely benign not provided 2018-07-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22232426, 22140441)
Breakthrough Genomics, Breakthrough Genomics RCV001590988 SCV005208741 likely benign not provided criteria provided, single submitter not provided

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