ClinVar Miner

Submissions for variant NM_001853.4(COL9A3):c.147+219G>A

gnomAD frequency: 0.00759  dbSNP: rs535876836
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001575770 SCV001802829 likely benign not provided 2018-10-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001575770 SCV004150852 benign not provided 2023-05-01 criteria provided, single submitter clinical testing COL9A3: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001575770 SCV005210075 likely benign not provided criteria provided, single submitter not provided

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