ClinVar Miner

Submissions for variant NM_005654.6(NR2F1):c.344G>C (p.Arg115Pro)

dbSNP: rs587777274
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000114387 SCV000258384 likely pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome 2014-02-06 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000114387 SCV000258431 pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome 2015-09-09 criteria provided, single submitter research This study shows that diverse genetic causes underlie CVI.
OMIM RCV000114387 SCV000148088 pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome 2014-02-06 no assertion criteria provided literature only

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