ClinVar Miner

Submissions for variant NM_001853.4(COL9A3):c.79-7G>A

gnomAD frequency: 0.00180  dbSNP: rs200155296
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000898710 SCV001042933 likely benign not provided 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000898710 SCV001813550 likely benign not provided 2020-11-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003940820 SCV004749815 benign COL9A3-related disorder 2019-07-26 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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