ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.732_741del (p.His245fs)

dbSNP: rs1555321345
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623057 SCV000741026 pathogenic Inborn genetic diseases 2015-08-25 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001783114 SCV002026258 pathogenic Rett syndrome, congenital variant 2018-01-20 criteria provided, single submitter clinical testing

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