ClinVar Miner

Submissions for variant NM_000183.2(HADHB):c.-185G>C

gnomAD frequency: 0.00137  dbSNP: rs367712851
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000297087 SCV000429547 likely benign Mitochondrial trifunctional protein deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000297087 SCV000483925 likely benign Mitochondrial trifunctional protein deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001824744 SCV000483926 likely benign Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2016-06-14 criteria provided, single submitter clinical testing

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