ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.1069G>A (p.Gly357Ser)

dbSNP: rs1423486005
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV001787278 SCV002029112 pathogenic Spondyloepiphyseal dysplasia congenita 2021-07-12 criteria provided, single submitter clinical testing

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