ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.3756C>T (p.Asp1252=)

dbSNP: rs377079894
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680492 SCV000807871 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001432331 SCV001635100 likely benign not provided 2023-09-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001432331 SCV005074780 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing COL2A1: BP4, BP7

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