ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.2756C>T (p.Pro919Leu)

gnomAD frequency: 0.00001  dbSNP: rs768207318
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics, Inha University Hospital, Inha University College of Medicine RCV001375853 SCV001572780 likely pathogenic Spondyloepiphyseal dysplasia, Namaqualand type no assertion criteria provided clinical testing

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