ClinVar Miner

Submissions for variant NM_006371.5(CRTAP):c.1152+36C>A

gnomAD frequency: 0.86128  dbSNP: rs4234239
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000834191 SCV000975959 benign not provided 2018-06-19 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.
Genome-Nilou Lab RCV001664469 SCV001876334 benign Osteogenesis imperfecta type 7 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000834191 SCV005245110 benign not provided criteria provided, single submitter not provided

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