ClinVar Miner

Submissions for variant NM_006796.3(AFG3L2):c.1289C>T (p.Thr430Ile)

dbSNP: rs1908369114
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neurogenetics, IRCCS Istituto delle Scienze Neurologiche di Bologna RCV001249478 SCV001422484 pathogenic Optic atrophy; Reduced tendon reflexes no assertion criteria provided research

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