ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.11624G>A (p.Ser3875Asn)

gnomAD frequency: 0.99272  dbSNP: rs12650153
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000417654 SCV000519334 benign not specified 2016-01-08 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.
Mendelics RCV000987472 SCV001136769 benign Van Maldergem syndrome 2 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001511557 SCV001718829 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702469 SCV001933366 benign Hennekam lymphangiectasia-lymphedema syndrome 2 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000987472 SCV001933367 benign Van Maldergem syndrome 2 2021-08-10 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000417654 SCV004233166 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 RCV001511557 SCV005302788 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000417654 SCV001919405 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000417654 SCV001958959 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000417654 SCV001966005 benign not specified no assertion criteria provided clinical testing

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