ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.2804C>A (p.Pro935His)

gnomAD frequency: 0.00001  dbSNP: rs368422725
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659318 SCV000781129 uncertain significance Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV002255158 SCV002526603 uncertain significance not provided 2022-06-15 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Invitae RCV002255158 SCV003297421 likely benign not provided 2022-09-02 criteria provided, single submitter clinical testing

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