ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.990+8G>A

gnomAD frequency: 0.00001  dbSNP: rs756299328
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001727908 SCV002376390 likely benign not provided 2024-01-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004542029 SCV004792905 likely benign COL11A1-related disorder 2019-02-19 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).
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579753 SCV001808395 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727908 SCV001975927 likely benign not provided no assertion criteria provided clinical testing

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