ClinVar Miner

Submissions for variant NM_005654.6(NR2F1):c.327C>A (p.Phe109Leu)

dbSNP: rs1753211889
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV001254042 SCV001429947 likely pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome 2020-06-08 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001254042 SCV002020158 likely pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome 2020-10-27 criteria provided, single submitter clinical testing

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