ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.3111G>A (p.Pro1037=)

dbSNP: rs146093235
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001718918 SCV000721358 likely benign not provided 2021-03-17 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680468 SCV000807843 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001718918 SCV002383129 likely benign not provided 2024-01-03 criteria provided, single submitter clinical testing

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