ClinVar Miner

Submissions for variant NM_138713.4(NFAT5):c.1697C>G (p.Ala566Gly)

gnomAD frequency: 0.00048  dbSNP: rs150693156
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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 RCV000879829 SCV001022882 benign Immunodeficiency 2023-12-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003940389 SCV004756726 likely benign NFAT5-related disorder 2019-10-30 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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