ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.6843+29G>T

gnomAD frequency: 0.99271  dbSNP: rs10010000
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001703300 SCV001933357 benign Hennekam lymphangiectasia-lymphedema syndrome 2 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001703299 SCV001933358 benign Van Maldergem syndrome 2 2021-08-10 criteria provided, single submitter clinical testing
GeneDx RCV001713689 SCV001943595 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003487732 SCV004233133 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 RCV001713689 SCV005302767 benign not provided criteria provided, single submitter not provided

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