ClinVar Miner

Submissions for variant NM_005654.6(NR2F1):c.1217T>C (p.Met406Thr)

dbSNP: rs1060499589
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477887 SCV000536813 uncertain significance Bosch-Boonstra-Schaaf optic atrophy syndrome 2016-02-23 no assertion criteria provided research

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