ClinVar Miner

Submissions for variant NM_001844.4(COL2A1):c.-187G>A

gnomAD frequency: 0.02510  dbSNP: rs41317877
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000351784 SCV000483379 likely benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000398340 SCV000483380 likely benign Type II Collagenopathies 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000835298 SCV000977085 benign not provided 2018-06-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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