ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.2610+9T>C

gnomAD frequency: 0.00001  dbSNP: rs754222130
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000275509 SCV000344080 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000275509 SCV001056783 likely benign not provided 2024-12-07 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278320 SCV002566627 uncertain significance Connective tissue disorder 2019-12-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535437 SCV004735336 likely benign COL11A1-related disorder 2020-06-09 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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