ClinVar Miner

Submissions for variant NM_181457.4(PAX3):c.251C>T (p.Ser84Phe) (rs104893651)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000004432 SCV000024605 pathogenic Klein-Waardenberg's syndrome 1995-05-01 no assertion criteria provided literature only
OMIM RCV000004433 SCV000024606 pathogenic Waardenburg syndrome type 1 1995-05-01 no assertion criteria provided literature only
Hereditary Research Laboratory,Bethlehem University RCV000004433 SCV000538111 pathogenic Waardenburg syndrome type 1 2016-06-04 no assertion criteria provided research Waardenburg syn

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