ClinVar Miner

Submissions for variant NM_138713.4(NFAT5):c.1239C>G (p.Val413=)

dbSNP: rs751126952
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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 RCV001431889 SCV001634651 likely benign Immunodeficiency 2018-01-17 criteria provided, single submitter clinical testing

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