ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.1581+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences RCV003444051 SCV004171080 likely pathogenic Spondyloepiphyseal dysplasia congenita 2023-11-27 criteria provided, single submitter research

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