ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.353G>A (p.Arg118Gln)

gnomAD frequency: 0.00061  dbSNP: rs143848379
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000732119 SCV000618166 uncertain significance not provided 2024-05-14 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Eurofins Ntd Llc (ga) RCV000732119 SCV000860026 uncertain significance not provided 2018-03-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764655 SCV000895778 uncertain significance Epiphyseal dysplasia, multiple, 6; Stickler syndrome, type 4 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000732119 SCV001061797 likely benign not provided 2024-11-18 criteria provided, single submitter clinical testing

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