ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.1359+17del

dbSNP: rs765250820
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000603616 SCV000727882 likely benign not specified 2018-02-20 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 RCV000680475 SCV000807851 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV001496684 SCV001701392 likely benign not provided 2024-01-19 criteria provided, single submitter clinical testing

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