ClinVar Miner

Submissions for variant NM_025207.5(FLAD1):c.397_400TTCT[1] (p.Phe134fs) (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 Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency criteria provided, single submitter case-control
OMIM RCV000234837 SCV000292021 pathogenic Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency 2014-07-02 no assertion criteria provided literature only

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