ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.3952G>A (p.Glu1318Lys)

gnomAD frequency: 0.00008  dbSNP: rs781229123
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427970 SCV000532016 likely benign not specified 2017-12-06 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.
Eurofins Ntd Llc (ga) RCV000727461 SCV000708741 uncertain significance not provided 2017-05-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000727461 SCV001232340 benign not provided 2024-12-02 criteria provided, single submitter clinical testing

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