ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3925-16C>T

gnomAD frequency: 0.00099  dbSNP: rs201491791
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421397 SCV000516389 likely benign not specified 2017-11-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659322 SCV000781133 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001515435 SCV001723509 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001515435 SCV004562298 benign not provided 2023-10-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001515435 SCV005259194 likely benign not provided criteria provided, single submitter not provided

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