ClinVar Miner

Submissions for variant NM_004465.2(FGF10):c.355G>A (p.Gly119Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Grupo de Genetica Humana, Facultad de Medicina - Universidad de La Sabana RCV003321462 SCV004025903 likely pathogenic Orofacial cleft 1 2022-11-22 criteria provided, single submitter research Variant in FGF10 that has been involved in birth defects, such as Aplasia of lacrimal and salivary glands, craniosynostosis, among others, according to several online databases (CGD, ClinGen, GenCC, Mondo and gene2phenotype).

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