ClinVar Miner

Submissions for variant NM_138713.4(NFAT5):c.1923+10A>G

gnomAD frequency: 0.00001  dbSNP: rs764966657
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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 RCV002185934 SCV002482277 likely benign Immunodeficiency 2020-12-18 criteria provided, single submitter clinical testing

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