ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.898-185T>C

gnomAD frequency: 0.00263  dbSNP: rs138792819
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334965 SCV001527982 uncertain significance Fibrochondrogenesis 1 2018-03-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001561099 SCV001783634 likely benign not provided 2020-09-29 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Canonical splice site variant with an unclear effect on protein function; Located in an alternatively spliced exon in which no variants have been reported in association with COL11A1-related disorders to date in the Human Gene Mutation Database (Stenson et al., 2014); This variant is associated with the following publications: (PMID: 32578940)
PreventionGenetics, part of Exact Sciences RCV004531120 SCV004752244 likely benign COL11A1-related disorder 2019-10-23 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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