ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3270+19T>C

gnomAD frequency: 0.96626  dbSNP: rs2745176
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000601310 SCV000728722 benign not specified 2017-09-13 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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000612733 SCV000745463 benign Saldino-Mainzer syndrome 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV000612733 SCV001723354 benign Saldino-Mainzer syndrome 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001544452 SCV001763497 benign Retinitis pigmentosa 80 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000612733 SCV001763498 benign Saldino-Mainzer syndrome 2021-07-14 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000612733 SCV000733491 benign Saldino-Mainzer syndrome no assertion criteria provided clinical testing

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