ClinVar Miner

Submissions for variant NM_138713.4(NFAT5):c.550T>C (p.Leu184=)

gnomAD frequency: 0.00001  dbSNP: rs770668167
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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 RCV002134368 SCV002455853 likely benign Immunodeficiency 2023-02-22 criteria provided, single submitter clinical testing

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