ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.3561T>G (p.Pro1187=)

dbSNP: rs536885536
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000270293 SCV000378980 uncertain significance Type II Collagenopathies 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000306779 SCV000378981 uncertain significance Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001697751 SCV000715639 likely benign not provided 2018-04-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001697751 SCV002407681 benign not provided 2023-07-30 criteria provided, single submitter clinical testing

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