ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.2196+15C>T

gnomAD frequency: 0.00001  dbSNP: rs768084384
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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 RCV000659315 SCV000781126 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002534312 SCV002930116 likely benign not provided 2023-11-27 criteria provided, single submitter clinical testing

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