ClinVar Miner

Submissions for variant NM_006796.3(AFG3L2):c.1220A>G (p.Asp407Gly)

dbSNP: rs1908371616
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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 RCV001249475 SCV001422481 pathogenic Sensorineural hearing loss disorder; Optic atrophy no assertion criteria provided research
OMIM RCV001253813 SCV001429686 pathogenic Optic atrophy 12 2020-08-13 no assertion criteria provided literature only

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