ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.813C>T (p.Leu271=)

gnomAD frequency: 0.00012  dbSNP: rs143505163
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Total submissions: 4
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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 RCV000680477 SCV000807853 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
GeneDx RCV001556560 SCV001778165 likely benign not provided 2020-08-24 criteria provided, single submitter clinical testing
Invitae RCV001556560 SCV002454984 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003928166 SCV004738480 likely benign COL11A2-related disorder 2019-03-26 criteria provided, single submitter 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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