ClinVar Miner

Submissions for variant NM_005654.6(NR2F1):c.292T>C (p.Tyr98His)

dbSNP: rs2149941592
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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 RCV001754557 SCV001994795 pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome 2021-10-29 no assertion criteria provided clinical testing

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