ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.2121+18C>A

gnomAD frequency: 0.00004  dbSNP: rs587780904
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124410 SCV000167843 benign not specified 2013-07-18 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002514666 SCV002951378 likely benign Ehlers-Danlos syndrome, type 4 2025-01-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000124410 SCV005886825 likely benign not specified 2025-02-03 criteria provided, single submitter clinical testing

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