ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.-1G>T

gnomAD frequency: 0.00211  dbSNP: rs72809666
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078333 SCV000110179 likely benign not specified 2017-01-16 criteria provided, single submitter clinical testing
GeneDx RCV000997087 SCV000524709 likely benign not provided 2021-04-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000997087 SCV001152190 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing HADHA: BP4, BS2
Illumina Laboratory Services, Illumina RCV001141194 SCV001301522 likely benign Mitochondrial trifunctional protein deficiency 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV001143036 SCV001303533 likely benign Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genome-Nilou Lab RCV001143036 SCV001786786 likely benign Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001141194 SCV001786787 likely benign Mitochondrial trifunctional protein deficiency 2021-07-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925038 SCV004744597 likely benign HADHA-related condition 2019-09-10 criteria provided, single submitter 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).
Natera, Inc. RCV001143036 SCV002076534 likely benign Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2021-02-26 no assertion criteria provided clinical testing

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