ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.1843A>G (p.Asn615Asp)

gnomAD frequency: 0.00349  dbSNP: rs61731155
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704662 SCV000618157 benign not provided 2019-06-21 criteria provided, single submitter clinical testing
Invitae RCV000876475 SCV001019051 benign Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2024-01-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821458 SCV002071276 benign not specified 2019-10-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000876475 SCV002806513 benign Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2021-08-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001704662 SCV004138727 benign not provided 2023-10-01 criteria provided, single submitter clinical testing HADHA: BP4, BS1, BS2
Natera, Inc. RCV001271657 SCV001452960 benign Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2019-10-28 no assertion criteria provided clinical testing

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