ClinVar Miner

Submissions for variant NM_138713.4(NFAT5):c.2541T>C (p.Asp847=)

gnomAD frequency: 0.00021  dbSNP: rs145897440
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 RCV001470132 SCV001674225 likely benign Immunodeficiency 2023-11-16 criteria provided, single submitter clinical testing

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