ClinVar Miner

Submissions for variant NM_005654.6(NR2F1):c.986_990del (p.Thr329fs)

dbSNP: rs1753268855
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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 RCV001253606 SCV001429418 likely pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome 2019-01-17 criteria provided, single submitter clinical testing

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