ClinVar Miner

Submissions for variant NM_006940.6(SOX5):c.1681A>C (p.Asn561His)

dbSNP: rs1591908568
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000857299 SCV001138664 likely pathogenic Lamb-Shaffer syndrome 2019-05-28 criteria provided, single submitter clinical testing
Institute for Human Genetics, University Hospital Essen RCV000857299 SCV000999893 pathogenic Lamb-Shaffer syndrome 2019-08-05 no assertion criteria provided clinical testing

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