ClinVar Miner

Submissions for variant NM_004625.4(WNT7A):c.874C>T (p.Arg292Cys)

dbSNP: rs104893835
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000008526 SCV004806262 likely pathogenic Schinzel phocomelia syndrome 2024-03-25 criteria provided, single submitter clinical testing
OMIM RCV000008526 SCV000028734 pathogenic Schinzel phocomelia syndrome 2006-08-01 no assertion criteria provided literature only

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