ClinVar Miner

Submissions for variant NM_006941.4(SOX10):c.267del (p.Met90fs)

dbSNP: rs2145777226
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV001775033 SCV001573798 pathogenic Waardenburg syndrome type 1 2021-04-26 no assertion criteria provided clinical testing
Genomics England Pilot Project, Genomics England RCV001542711 SCV001760487 pathogenic PCWH syndrome no assertion criteria provided clinical testing

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