ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.2115A>G (p.Gln705=)

gnomAD frequency: 0.00001  dbSNP: rs544663655
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000903918 SCV000726757 likely benign not provided 2020-06-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000903918 SCV001048408 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000903918 SCV001147358 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533236 SCV004721861 likely benign COL11A1-related disorder 2022-03-04 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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