ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.-1G>T (rs72809666)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078333 SCV000110179 likely benign not specified 2017-01-16 criteria provided, single submitter clinical testing
GeneDx RCV000997087 SCV000524709 likely benign not provided 2021-04-08 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000997087 SCV001152190 uncertain significance not provided 2018-11-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001141194 SCV001301522 likely benign Mitochondrial trifunctional protein deficiency 2017-04-27 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV001143036 SCV001303533 likely benign Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2017-04-27 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Nilou-Genome Lab RCV001143036 SCV001786786 likely benign Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2021-07-14 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001141194 SCV001786787 likely benign Mitochondrial trifunctional protein deficiency 2021-07-14 criteria provided, single submitter clinical testing

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