ClinVar Miner

Submissions for variant NM_138713.4(NFAT5):c.3291C>T (p.Ala1097=)

gnomAD frequency: 0.00003  dbSNP: rs200900195
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 RCV003121554 SCV003786274 likely benign Immunodeficiency 2024-04-30 criteria provided, single submitter clinical testing

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