ClinVar Miner

Submissions for variant NM_080679.2(COL11A2):c.3719C>A (p.Pro1240Gln) (rs142890313)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000150349 SCV000704981 likely benign not specified 2017-08-10 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764645 SCV000895754 uncertain significance Deafness, autosomal recessive 53; Deafness, autosomal dominant 13; Otospondylomegaepiphyseal dysplasia; Stickler syndrome, type 3; Fibrochondrogenesis 2 2018-10-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150349 SCV000197459 likely benign not specified 2018-10-31 criteria provided, single submitter clinical testing The p.Pro1347Gln variant in COL11A2 is classified as likely benign because it ha s been identified in 0.3% (74/22572) of African chromosomes including 2 homozygo tes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org ). ACMG/AMP Criteria applied: BS1.

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