ClinVar Miner

Submissions for variant NM_138713.4(NFAT5):c.2157C>T (p.Ser719=)

dbSNP: rs531151605
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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 RCV001406996 SCV001608962 likely benign Immunodeficiency 2019-10-21 criteria provided, single submitter clinical testing

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