ClinVar Miner

Submissions for variant NM_138713.4(NFAT5):c.1505-16_1505-15insGT

dbSNP: rs3217434
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001518206 SCV001726860 benign Immunodeficiency 2024-02-01 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003394099 SCV004101891 benign not specified 2023-11-12 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 76% of patients studied by a panel of primary immunodeficiencies. Number of patients: 73. Only high quality variants are reported.

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