ClinVar Miner

Submissions for variant NM_138713.4(NFAT5):c.3321A>G (p.Gln1107=)

gnomAD frequency: 0.00003  dbSNP: rs764868144
Minimum review status: Collection method:
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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 RCV001967737 SCV002220032 likely benign Immunodeficiency 2023-06-24 criteria provided, single submitter clinical testing

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