ClinVar Miner

Submissions for variant NM_001853.4(COL9A3):c.1245C>A (p.Gly415=)

gnomAD frequency: 0.00011  dbSNP: rs73598379
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000886889 SCV001030418 benign not provided 2023-12-19 criteria provided, single submitter clinical testing
GeneDx RCV000886889 SCV001784307 likely benign not provided 2020-08-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278527 SCV002566424 likely benign Connective tissue disorder 2020-05-01 criteria provided, single submitter clinical testing

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