ClinVar Miner

Submissions for variant NM_138713.4(NFAT5):c.4191A>C (p.Ala1397=)

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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 RCV003756110 SCV004484135 likely benign Immunodeficiency 2022-12-21 criteria provided, single submitter clinical testing

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