ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1792-39ATG[12]

dbSNP: rs71752747
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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 RCV000345467 SCV000346526 uncertain significance Marshall syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000388292 SCV000346527 uncertain significance Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000296252 SCV000346528 uncertain significance Fibrochondrogenesis 1 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001516124 SCV001724351 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001516124 SCV004565114 likely benign not provided 2023-05-04 criteria provided, single submitter clinical testing

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