ClinVar Miner

Submissions for variant NM_001853.4(COL9A3):c.891C>T (p.Ser297=)

gnomAD frequency: 0.00116  dbSNP: rs142412708
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ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000405058 SCV000335040 likely benign not specified 2015-09-28 criteria provided, single submitter clinical testing
Invitae RCV000882485 SCV001025726 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000882485 SCV001935010 benign not provided 2018-12-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000882485 SCV004150860 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing COL9A3: BP4, BP7, BS2

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