ClinVar Miner

Submissions for variant NM_006940.6(SOX5):c.1789A>G (p.Met597Val)

dbSNP: rs1940534444
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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 RCV001095675 SCV001251445 likely pathogenic Lamb-Shaffer syndrome 2019-10-28 criteria provided, single submitter clinical testing The variant was identified as de novo (maternity and paternity confirmed)

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