ClinVar Miner

Submissions for variant NM_000183.3(HADHB):c.1390-515_1390-499del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health RCV004759773 SCV005368673 pathogenic Mitochondrial trifunctional protein deficiency 2 2024-10-08 criteria provided, single submitter clinical testing This is a part of a compound heterozygous variants. Variants were segregated to affected members of the family. There is also biochemical evidence of Trifunctional protein deficiency in affected family members.
Undiagnosed Diseases Network, NIH RCV004759773 SCV005368728 uncertain significance Mitochondrial trifunctional protein deficiency 2 2023-01-10 no assertion criteria provided clinical testing

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