ClinVar Miner

Submissions for variant NM_138713.4(NFAT5):c.2349A>C (p.Pro783=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005123547 SCV005743353 likely benign Immunodeficiency 2024-03-03 criteria provided, single submitter clinical testing

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