ClinVar Miner

Submissions for variant NM_002855.5(NECTIN1):c.226C>T (p.Gln76Ter)

dbSNP: rs778591472
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Total submissions: 1
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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 RCV003984996 SCV004801210 likely pathogenic Cleft lip/palate-ectodermal dysplasia syndrome 2024-03-14 criteria provided, single submitter research

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