ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.4040C>A (p.Pro1347Gln)

gnomAD frequency: 0.00089  dbSNP: rs142890313
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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, ). ACMG/AMP Criteria applied: BS1.
Eurofins Ntd Llc (ga) RCV000150349 SCV000704981 likely benign not specified 2017-08-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764645 SCV000895754 uncertain significance Autosomal recessive nonsyndromic hearing loss 53; Autosomal dominant nonsyndromic hearing loss 13; Otospondylomegaepiphyseal dysplasia, autosomal recessive; Otospondylomegaepiphyseal dysplasia, autosomal dominant; Fibrochondrogenesis 2 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001560335 SCV001782724 likely benign not provided 2021-03-04 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001560335 SCV002469993 benign not provided 2024-01-28 criteria provided, single submitter clinical testing

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