ClinVar Miner

Submissions for variant NM_001852.4(COL9A2):c.1007C>A (p.Ala336Glu)

gnomAD frequency: 0.00242  dbSNP: rs150075912
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175424 SCV000226901 benign not specified 2015-06-01 criteria provided, single submitter clinical testing
GeneDx RCV000900526 SCV000727523 likely benign not provided 2021-01-06 criteria provided, single submitter clinical testing
Invitae RCV000900526 SCV001044848 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000900526 SCV001143286 benign not provided 2019-02-15 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277356 SCV002566400 likely benign Connective tissue disorder 2019-08-01 criteria provided, single submitter clinical testing

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