ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.2331+16G>A

gnomAD frequency: 0.00028  dbSNP: rs199654385
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124424 SCV000167857 benign not specified 2013-09-13 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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659446 SCV000781261 uncertain significance Ehlers-Danlos syndrome, classic type 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV002055482 SCV002404001 benign Ehlers-Danlos syndrome, classic type, 1 2024-01-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000124424 SCV004803339 benign not specified 2024-01-15 criteria provided, single submitter clinical testing

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