ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.2340+9_2340+13del

dbSNP: rs374301870
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000894675 SCV001038676 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000894675 SCV001756993 likely benign not provided 2018-12-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530994 SCV004753130 benign COL11A1-related disorder 2019-06-20 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center RCV001701352 SCV001921801 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000894675 SCV001966964 likely benign not provided no assertion criteria provided clinical testing

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