ClinVar Miner

Submissions for variant NM_025207.5(FLAD1):c.797del (p.Glu266fs)

gnomAD frequency: 0.00001  dbSNP: rs1657723514
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomics England Pilot Project, Genomics England RCV001542637 SCV001759990 pathogenic Myopathy with abnormal lipid metabolism no assertion criteria provided clinical testing

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