ClinVar Miner

Submissions for variant NM_025207.5(FLAD1):c.568_569dup (p.Val191fs) (rs876661310)

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Total submissions: 2
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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 RCV000223944 SCV000266356 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2016-03-14 criteria provided, single submitter research
OMIM RCV000234839 SCV000292024 pathogenic Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency 2019-09-10 no assertion criteria provided literature only

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