ClinVar Miner

Submissions for variant NM_016312.3(WBP11):c.612del (p.Gly205fs)

dbSNP: rs1949868116
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Embryology Laboratory, Victor Chang Cardiac Research Institute RCV001199834 SCV001337645 likely pathogenic WBP11 spliceosomopathy 2020-06-01 criteria provided, single submitter research
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV001312231 SCV003806868 likely pathogenic Vertebral, cardiac, tracheoesophageal, renal, and limb defects 2022-07-15 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 strong, PS4 supporting, PM2 moderated, PP1 supporting
OMIM RCV001312231 SCV001502666 pathogenic Vertebral, cardiac, tracheoesophageal, renal, and limb defects 2021-03-19 no assertion criteria provided literature only

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