ClinVar Miner

Submissions for variant NM_025207.5(FLAD1):c.401_404del (p.Phe134fs)

dbSNP: rs876661313
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Research Unit for Molecular Medicine, Department for Clinical Medicine, Aarhus University RCV000223949 SCV000266360 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2016-03-14 criteria provided, single submitter research
Pediatric Metabolic Diseases, Hacettepe University RCV000234837 SCV000778307 pathogenic Myopathy with abnormal lipid metabolism criteria provided, single submitter case-control
OMIM RCV000234837 SCV000292021 pathogenic Myopathy with abnormal lipid metabolism 2014-07-02 no assertion criteria provided literature only

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