ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.2017+23A>G

dbSNP: rs3816065
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001533850 SCV001750717 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840820 SCV002100168 benign Gastrointestinal defects and immunodeficiency syndrome 1 2021-09-10 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003487431 SCV004233062 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 76% of patients studied by a panel of primary immunodeficiencies. Number of patients: 72. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001533850 SCV005241272 benign not provided criteria provided, single submitter not provided

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