ClinVar Miner

Submissions for variant NM_001122659.3(EDNRB):c.430G>T (p.Ala144Ser)

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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 RCV005052991 SCV005686611 likely pathogenic Waardenburg syndrome type 4A 2025-01-09 criteria provided, single submitter research

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