ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.3472G>C (p.Gly1158Arg)

dbSNP: rs1057518911
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415337 SCV000492889 likely pathogenic Narrow chest; Disproportionate short-limb short stature 2015-06-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196300 SCV001366886 likely pathogenic Achondrogenesis type II 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic.

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