ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.2141G>A (p.Gly714Asp)

dbSNP: rs1555166537
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506248 SCV000603126 likely pathogenic not specified 2017-02-06 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003988849 SCV004805383 uncertain significance Stickler syndrome type 1 2024-03-25 criteria provided, single submitter research

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