ClinVar Miner

Submissions for variant NM_025207.5(FLAD1):c.836del (p.Phe279fs)

dbSNP: rs876661311
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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 RCV000223939 SCV000266358 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2016-03-14 criteria provided, single submitter research
OMIM RCV000234842 SCV000292025 pathogenic Myopathy with abnormal lipid metabolism 2019-09-10 no assertion criteria provided literature only

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