ClinVar Miner

Submissions for variant NM_005654.6(NR2F1):c.1065del (p.Glu354_Tyr355insTer)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV004560364 SCV005047027 pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome 2024-06-05 criteria provided, single submitter clinical testing

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