ClinVar Miner

Submissions for variant NM_006940.6(SOX5):c.747_748del (p.Arg250fs)

dbSNP: rs1555301854
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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 RCV000624452 SCV000742986 pathogenic Inborn genetic diseases 2017-10-03 criteria provided, single submitter clinical testing
Institute for Human Genetics, University Hospital Essen RCV000857291 SCV000999885 pathogenic Lamb-Shaffer syndrome 2019-08-05 no assertion criteria provided clinical testing

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