ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.2146+16T>C

gnomAD frequency: 0.00408  dbSNP: rs145930159
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000185927 SCV000238882 benign not specified 2014-07-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812180 SCV001159542 benign not provided 2020-04-10 criteria provided, single submitter clinical testing
Invitae RCV001516156 SCV001724388 benign Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833110 SCV002076490 likely benign Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2019-12-04 no assertion criteria provided clinical testing

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