ClinVar Miner

Submissions for variant NM_005654.6(NR2F1):c.331A>G (p.Lys111Glu)

dbSNP: rs2149941611
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001823039 SCV002072569 likely pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome 2022-01-25 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed)._x000D_ Criteria applied: PS2_MOD, PM1, PM2_SUP, PP3

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