ClinVar Miner

Submissions for variant NM_005327.7(HADH):c.636+13G>A

gnomAD frequency: 0.04139  dbSNP: rs17511214
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247839 SCV000306974 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000344444 SCV000446840 benign Deficiency of 3-hydroxyacyl-CoA dehydrogenase 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000404211 SCV000446841 likely benign Hyperinsulinemic hypoglycemia, familial, 4 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000344444 SCV001726419 benign Deficiency of 3-hydroxyacyl-CoA dehydrogenase 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001539407 SCV001757182 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002463669 SCV002605191 likely benign Hyperinsulinemic hypoglycemia, familial, 1 criteria provided, single submitter research Potent mutations in HADH gene are associated with congenital hyperinsulinism, which leads to recurrent hypoglycemia. The condition is exacerbated by stress, fasting or excessive dietary protein. May respond well to diazoxide. However, the role of this particular variant rs17511214 in congenital hyperinsulinism is yet to be ascertained.
Breakthrough Genomics, Breakthrough Genomics RCV001539407 SCV005263059 likely benign not provided criteria provided, single submitter not provided

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