ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.928A>G (p.Arg310Gly)

dbSNP: rs2066264802
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital RCV001290151 SCV001478209 likely pathogenic Waardenburg syndrome type 2A 2019-01-01 criteria provided, single submitter clinical testing
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital RCV001290151 SCV001763642 likely pathogenic Waardenburg syndrome type 2A no assertion criteria provided case-control

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