ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.1569T>A (p.Gly523=)

gnomAD frequency: 0.00027  dbSNP: rs150970524
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243433 SCV000308333 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000887792 SCV000719767 likely benign not provided 2020-11-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000887792 SCV001031375 benign not provided 2025-01-28 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000243433 SCV001925484 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000887792 SCV001973742 likely benign not provided no assertion criteria provided clinical testing

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