ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.*242dup

dbSNP: rs3215859
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000355827 SCV000464536 benign Stickler Syndrome, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000265754 SCV000464537 benign Multiple Epiphyseal Dysplasia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001613187 SCV001840983 benign not provided 2019-08-18 criteria provided, single submitter clinical testing

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