ClinVar Miner

Submissions for variant NM_005654.6(NR2F1):c.340G>C (p.Val114Leu)

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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 Human Genetics, University of Goettingen RCV003494604 SCV004244388 likely pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome 2024-02-08 criteria provided, single submitter clinical testing

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