ClinVar Miner

Submissions for variant NM_001853.4(COL9A3):c.309+11G>A

gnomAD frequency: 0.00541  dbSNP: rs146033082
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001515351 SCV001723405 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001515351 SCV001793042 likely benign not provided 2018-12-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488728 SCV002797834 likely benign Epiphyseal dysplasia, multiple, 3; Intervertebral disc disorder 2021-08-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001515351 SCV005210079 likely benign not provided criteria provided, single submitter not provided

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