ClinVar Miner

Submissions for variant NM_006941.3(SOX10):c.429-1G>A (rs1569169328)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations RCV000722042 SCV000844983 pathogenic Waardenburg syndrome type 4A 2018-10-24 criteria provided, single submitter research The c.429-1G>A variant in SOX10 gene was reported in patient with Hirschsprung's disease and deafness. To our knowledge, this variant is absent from population databases. The variant affects the canonical slice site, had arisen de novo and thus meets the ACMG criteria for pathogenic variants.

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