ClinVar Miner

Submissions for variant NM_138713.4(NFAT5):c.2046G>A (p.Gln682=)

gnomAD frequency: 0.00001  dbSNP: rs1050946292
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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 RCV001432453 SCV001635224 likely benign Immunodeficiency 2019-02-13 criteria provided, single submitter clinical testing

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