ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.12822+28T>G

gnomAD frequency: 0.34175  dbSNP: rs11098815
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000839890 SCV000981800 benign not provided 2018-06-14 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.
Genome-Nilou Lab RCV001702733 SCV001933370 benign Hennekam lymphangiectasia-lymphedema syndrome 2 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001703240 SCV001933371 benign Van Maldergem syndrome 2 2021-08-10 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003489933 SCV004233163 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 66% of patients studied by a panel of primary immunodeficiencies. Number of patients: 63. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV000839890 SCV005303326 benign not provided criteria provided, single submitter not provided

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