ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.1052G>A (p.Gly351Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Precision Medicine Center,Zhengzhou University RCV001353101 SCV001548237 likely pathogenic Waardenburg syndrome type 2A criteria provided, single submitter research PS3+PM2+PP1+PP3

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