ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.1451C>T (p.Ala484Val)

gnomAD frequency: 0.00004  dbSNP: rs143965711
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597123 SCV000708541 uncertain significance not provided 2017-05-15 criteria provided, single submitter clinical testing
GeneDx RCV000597123 SCV001797217 uncertain significance not provided 2024-09-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD)
Labcorp Genetics (formerly Invitae), Labcorp RCV000597123 SCV002191412 benign not provided 2024-01-14 criteria provided, single submitter clinical testing
Institute of Human Genetics, University Hospital of Duesseldorf RCV004527391 SCV005038712 uncertain significance Autosomal dominant nonsyndromic hearing loss 33 criteria provided, single submitter not provided

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