ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.1230+5G>A

dbSNP: rs1057519244
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000415932 SCV000493694 likely pathogenic not provided 2016-07-31 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002244863 SCV002512562 likely pathogenic Autosomal dominant optic atrophy classic form 2022-01-15 criteria provided, single submitter clinical testing ACMG classification criteria: PS3 supporting, PS4 moderate, PM2 moderate, PP1 supporting, PP3 supporting

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