ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.262+16G>A

gnomAD frequency: 0.00179  dbSNP: rs192525886
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000602375 SCV000729645 likely benign not specified 2018-02-06 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811114 SCV001477664 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Invitae RCV001522828 SCV001732440 benign Jeune thoracic dystrophy; Nephronophthisis 2024-01-19 criteria provided, single submitter clinical testing

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