ClinVar Miner

Submissions for variant NM_005654.6(NR2F1):c.729_730delinsCT (p.Gln244Ter)

dbSNP: rs1554074850
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000656396 SCV000778403 likely pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome 2017-01-09 criteria provided, single submitter clinical testing

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