ClinVar Miner

Submissions for variant NM_006940.6(SOX5):c.622C>T (p.Gln208Ter)

dbSNP: rs1555307370
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000656552 SCV000778586 pathogenic Lamb-Shaffer syndrome 2018-04-16 criteria provided, single submitter research
Ambry Genetics RCV001266893 SCV001445073 pathogenic Inborn genetic diseases 2018-05-15 criteria provided, single submitter clinical testing
Institute for Human Genetics, University Hospital Essen RCV000656552 SCV000999883 pathogenic Lamb-Shaffer syndrome 2019-08-05 no assertion criteria provided clinical testing

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