ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.3101G>A (p.Arg1034His)

gnomAD frequency: 0.00006  dbSNP: rs957902805
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375385 SCV001571818 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Moderate, PM5_Moderate
GeneDx RCV001664857 SCV001875246 uncertain significance not provided 2024-04-09 criteria provided, single submitter clinical testing Reported as a variant of uncertain significance in a patient with cerebral palsy (PMID: 30467950); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30467950)
Labcorp Genetics (formerly Invitae), Labcorp RCV001664857 SCV003513001 benign not provided 2024-01-04 criteria provided, single submitter clinical testing

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