ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.1812G>A (p.Val604=)

gnomAD frequency: 0.00103  dbSNP: rs17843967
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000676849 SCV000729320 likely benign not provided 2021-04-23 criteria provided, single submitter clinical testing
Invitae RCV001083639 SCV001092548 benign Multiple acyl-CoA dehydrogenase deficiency 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001083639 SCV001308050 benign Multiple acyl-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.
PreventionGenetics, part of Exact Sciences RCV003953083 SCV004776090 likely benign ETFDH-related condition 2020-01-13 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Mayo Clinic Laboratories, Mayo Clinic RCV000676849 SCV000802660 likely benign not provided 2017-09-18 no assertion criteria provided clinical testing

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