ClinVar Miner

Submissions for variant NM_016312.3(WBP11):c.280C>T (p.Arg94Ter)

dbSNP: rs1949900423
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Embryology Laboratory, Victor Chang Cardiac Research Institute RCV001199830 SCV001337641 likely pathogenic WBP11 spliceosomopathy 2020-06-01 criteria provided, single submitter research
OMIM RCV001312232 SCV001502667 pathogenic Vertebral, cardiac, tracheoesophageal, renal, and limb defects 2021-03-19 no assertion criteria provided literature only

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