ClinVar Miner

Submissions for variant NM_138713.4(NFAT5):c.2892G>A (p.Glu964=)

gnomAD frequency: 0.00004  dbSNP: rs201618723
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001171917 SCV001334819 likely benign not provided 2020-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001221875 SCV001393944 likely benign Immunodeficiency 2023-06-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945902 SCV004759064 likely benign NFAT5-related disorder 2020-08-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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