ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.1502G>A (p.Gly501Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV002512508 SCV002820895 likely pathogenic Spondyloepiphyseal dysplasia congenita 2023-01-18 criteria provided, single submitter clinical testing Detected in a child with short stature. Affects glycine in triple helical region. Another missense variant of the same residue has been described in MED.

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