ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.3635G>C (p.Gly1212Ala)

dbSNP: rs1555164786
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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, Inc, Center for Human Genetics, Inc RCV000659404 SCV000781215 uncertain significance Stickler syndrome type 1 2016-11-01 criteria provided, single submitter clinical testing

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