ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1900G>C (p.Gly634Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004607908 SCV005108811 uncertain significance Inborn genetic diseases 2024-03-15 criteria provided, single submitter clinical testing The c.1900G>C (p.G634R) alteration is located in exon 20 (coding exon 20) of the COL11A1 gene. This alteration results from a G to C substitution at nucleotide position 1900, causing the glycine (G) at amino acid position 634 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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