ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.4750+19G>T

dbSNP: rs1046161149
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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 RCV000659346 SCV000781157 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV002534316 SCV002978065 likely benign not provided 2023-10-17 criteria provided, single submitter clinical testing

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