ClinVar Miner

Submissions for variant NM_005654.6(NR2F1):c.463+1G>A

dbSNP: rs1753213365
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196236 SCV001366787 likely pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. This variant arose de novo in at least one reported proband.

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