ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3115G>A (p.Gly1039Ser)

dbSNP: rs764282256
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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 Paediatrics and Adolescent Medicine, The University of Hong Kong RCV001257086 SCV001364386 likely pathogenic Marshall syndrome; Stickler syndrome type 2 2020-06-02 criteria provided, single submitter research

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