ClinVar Miner

Submissions for variant NM_138713.4(NFAT5):c.1359A>G (p.Pro453=)

gnomAD frequency: 0.00005  dbSNP: rs772261647
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 RCV001425655 SCV001628289 likely benign Immunodeficiency 2018-09-18 criteria provided, single submitter clinical testing

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