ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.3475-19G>A

gnomAD frequency: 0.00001  dbSNP: rs755564454
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680467 SCV000807842 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV003768039 SCV004620505 likely benign not provided 2023-06-09 criteria provided, single submitter clinical testing

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