ClinVar Miner

Submissions for variant NM_006796.3(AFG3L2):c.1541C>T (p.Pro514Leu)

dbSNP: rs1908300748
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neurogenetics, IRCCS Istituto delle Scienze Neurologiche di Bologna RCV001249476 SCV001422482 pathogenic Optic atrophy; Spastic paraparesis no assertion criteria provided research
OMIM RCV001253814 SCV001429687 pathogenic Optic atrophy 12 2020-08-13 no assertion criteria provided literature only

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