ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.1060G>A (p.Gly354Arg)

dbSNP: rs121912871
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV002280862 SCV000039191 pathogenic Spondyloepimetaphyseal dysplasia, Strudwick type 1996-05-03 no assertion criteria provided literature only
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV002280862 SCV002569142 likely pathogenic Spondyloepimetaphyseal dysplasia, Strudwick type no assertion criteria provided clinical testing

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