ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.2302-1G>T

dbSNP: rs2540132223
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Functional Genomics, Research Centre for Medical Genetics RCV003157996 SCV003837560 pathogenic Achondrogenesis type II criteria provided, single submitter clinical testing

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