ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.2060T>C (p.Met687Thr)

gnomAD frequency: 0.00173  dbSNP: rs149632783
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000876168 SCV001018700 benign Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2024-01-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001140976 SCV001301287 benign Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2017-04-28 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV001140977 SCV001301288 benign Mitochondrial trifunctional protein deficiency 2017-04-28 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Natera, Inc. RCV001140976 SCV001452956 likely benign Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2020-05-02 no assertion criteria provided clinical testing

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