ClinVar Miner

Submissions for variant NM_138713.4(NFAT5):c.1216T>C (p.Leu406=)

gnomAD frequency: 0.00004  dbSNP: rs371616463
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 RCV001471983 SCV001676107 likely benign Immunodeficiency 2018-06-14 criteria provided, single submitter clinical testing

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