ClinVar Miner

Submissions for variant NM_001024630.4(RUNX2):c.*2263C>T

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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 RCV003321465 SCV004025907 uncertain significance Orofacial cleft 1 2022-11-22 criteria provided, single submitter research VUS in a conserved region of exon 9 of RUNX2 gene, which encodes a member of the RUNX transcription factor family. Variants in these gene have been implicated with cleidocranial dysplasia (CCD), a congenital disorder affecting bone and cartilage development, which sometimes presents with orofacial clefts.

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