ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.5760T>C (p.Asp1920=)

gnomAD frequency: 0.99029  dbSNP: rs958415
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436313 SCV000518085 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001511555 SCV001718827 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702467 SCV001933353 benign Hennekam lymphangiectasia-lymphedema syndrome 2 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702466 SCV001933354 benign Van Maldergem syndrome 2 2021-08-10 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000436313 SCV004233122 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 RCV001511555 SCV005302763 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000436313 SCV001921991 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000436313 SCV001958014 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000436313 SCV001966857 benign not specified no assertion criteria provided clinical testing

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