ClinVar Miner

Submissions for variant NM_006941.4(SOX10):c.428+2T>C

dbSNP: rs1601886662
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000787014 SCV000925923 likely pathogenic Waardenburg syndrome type 2E 2019-01-14 no assertion criteria provided clinical testing

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