ClinVar Miner

Submissions for variant NM_001853.4(COL9A3):c.2010C>T (p.Ala670=)

gnomAD frequency: 0.00408  dbSNP: rs34911725
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000899369 SCV001043630 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000899369 SCV001865394 benign not provided 2020-02-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502309 SCV002809422 likely benign Epiphyseal dysplasia, multiple, 3; Intervertebral disc disorder 2021-10-13 criteria provided, single submitter clinical testing

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