ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.7199+29T>G

gnomAD frequency: 0.99289  dbSNP: rs7656135
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001598120 SCV001830476 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702129 SCV001933359 benign Hennekam lymphangiectasia-lymphedema syndrome 2 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001703131 SCV001933360 benign Van Maldergem syndrome 2 2021-08-10 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003487501 SCV004233144 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 100% of patients studied by a panel of primary immunodeficiencies. Number of patients: 95. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001598120 SCV005302769 benign not provided criteria provided, single submitter not provided

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