ClinVar Miner

Submissions for variant NM_138713.4(NFAT5):c.1291T>C (p.Leu431=)

gnomAD frequency: 0.00001  dbSNP: rs756626177
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001398527 SCV001600301 likely benign Immunodeficiency 2023-03-08 criteria provided, single submitter clinical testing

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