ClinVar Miner

Submissions for variant NM_005461.5(MAFB):c.11A>G (p.Glu4Gly)

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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 RCV003321463 SCV004025904 likely pathogenic Orofacial cleft 1 2022-11-22 criteria provided, single submitter research This variant occurs in a strongly conserved region of the unique exon of the MAFB gene, and most variants located in this region have been classified as pathogenic. Although this particular variant has not been linked to orofacial cleft (OFC) phenotypes, other variants in MAFB have been strongly correlated with syndromic and non-syndromic forms of OFC.

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