ClinVar Miner

Submissions for variant NM_001852.4(COL9A2):c.95G>A (p.Arg32Gln)

gnomAD frequency: 0.00294  dbSNP: rs200424850
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175705 SCV000227240 benign not specified 2015-02-04 criteria provided, single submitter clinical testing
GeneDx RCV000974836 SCV000720336 likely benign not provided 2021-03-17 criteria provided, single submitter clinical testing
Invitae RCV000974836 SCV001122704 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000974836 SCV001799872 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000175705 SCV001925295 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000974836 SCV001973110 likely benign not provided no assertion criteria provided clinical testing

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