ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.528+12T>C

dbSNP: rs1057523141
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418887 SCV000530867 likely benign not specified 2016-08-31 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 RCV000659412 SCV000781223 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing

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