ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.609+4del

dbSNP: rs1555168965
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000623544 SCV000740287 likely pathogenic Stickler syndrome type 1 2017-11-20 criteria provided, single submitter clinical testing

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