ClinVar Miner

Submissions for variant NM_005654.6(NR2F1):c.1096C>T (p.Arg366Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Lab, CHRU Brest RCV003883305 SCV004697663 likely pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome criteria provided, single submitter clinical testing
Institute of Human Genetics, Heidelberg University RCV003883305 SCV005440686 likely pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome 2024-08-23 criteria provided, single submitter clinical testing

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