ClinVar Miner

Submissions for variant NM_138713.4(NFAT5):c.3126T>C (p.Phe1042=)

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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 RCV002785454 SCV003020061 likely benign Immunodeficiency 2022-06-22 criteria provided, single submitter clinical testing

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