ClinVar Miner

Submissions for variant NM_006796.3(AFG3L2):c.1036C>T (p.Leu346Phe)

gnomAD frequency: 0.00001  dbSNP: rs755893615
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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 RCV001249479 SCV001422485 pathogenic Optic atrophy no assertion criteria provided research

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