ClinVar Miner

Submissions for variant NM_138713.4(NFAT5):c.4415-19G>T

gnomAD frequency: 0.00073  dbSNP: rs149776149
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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 RCV002131925 SCV002460285 benign Immunodeficiency 2024-01-12 criteria provided, single submitter clinical testing

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