ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.802_803inv (p.Gln268Ter)

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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 Rare Diseases, West China Hospital, Sichuan University RCV005053160 SCV005686792 likely pathogenic Waardenburg syndrome type 2A 2025-01-09 criteria provided, single submitter research PVS1;PM2_Supporting

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