ClinVar Miner

Submissions for variant NM_006941.4(SOX10):c.448A>G (p.Lys150Glu)

dbSNP: rs1932280017
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital RCV001729954 SCV001792235 pathogenic Waardenburg syndrome type 4C criteria provided, single submitter research de novo variant: proband with bilateral profound sensorineural hearing loss, total heterochromia irides, chronic intestinal obstruction, congenital megacolon was suspected at birth not confirmed

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