ClinVar Miner

Submissions for variant NM_138713.4(NFAT5):c.1370-14A>G

gnomAD frequency: 0.00006  dbSNP: rs557483217
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002210516 SCV002492702 likely benign Immunodeficiency 2023-05-29 criteria provided, single submitter clinical testing

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