ClinVar Miner

Submissions for variant NM_001853.4(COL9A3):c.110C>T (p.Pro37Leu)

gnomAD frequency: 0.00088  dbSNP: rs373605761
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000343568 SCV000335394 uncertain significance not provided 2017-09-27 criteria provided, single submitter clinical testing
Invitae RCV000343568 SCV001514499 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000343568 SCV001874273 uncertain significance not provided 2023-09-06 criteria provided, single submitter clinical testing Reported in 5/3,352 alleles from a cohort of individuals with age-related macular degeneration in published literature, although it was also identified in 2/1,490 control alleles in this same study (Seddon et al., 2013); 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: 24036952)
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000343568 SCV001979850 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000343568 SCV001980183 likely benign not provided no assertion criteria provided clinical testing

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