ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.4303-13del

dbSNP: rs35232764
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000393305 SCV000346384 benign Fibrochondrogenesis 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000308286 SCV000346385 benign Marshall syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000344187 SCV000346386 benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001511437 SCV000728779 benign not provided 2018-06-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001511437 SCV001718680 benign not provided 2025-02-03 criteria provided, single submitter clinical testing

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