ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.3859G>C (p.Asp1287His)

gnomAD frequency: 0.00001  dbSNP: rs1219133025
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262405 SCV001440262 uncertain significance Autosomal dominant nonsyndromic hearing loss 13 2019-01-01 criteria provided, single submitter clinical testing
GeneDx RCV003223713 SCV003919554 uncertain significance not provided 2022-10-18 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
Invitae RCV003223713 SCV004530552 likely benign not provided 2023-06-05 criteria provided, single submitter clinical testing

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