ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3357C>T (p.Ala1119=)

gnomAD frequency: 0.00003  dbSNP: rs375400337
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513479 SCV000608488 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000513479 SCV002454871 likely benign not provided 2023-07-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535648 SCV004730497 likely benign COL11A1-related disorder 2022-08-18 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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