ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1945-7C>A

dbSNP: rs201424786
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Total submissions: 3
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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 RCV000659314 SCV000781125 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000838595 SCV000980468 likely benign not provided 2021-02-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000838595 SCV001039131 benign not provided 2024-01-11 criteria provided, single submitter clinical testing

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