ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.2194-55T>C

gnomAD frequency: 0.43071  dbSNP: rs3829737
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988824 SCV001138709 benign Stickler syndrome type 1 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001644872 SCV001858160 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001644872 SCV005230694 benign not provided criteria provided, single submitter not provided

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