ClinVar Miner

Submissions for variant NM_138713.4(NFAT5):c.3843ACA[2] (p.Gln1284del)

dbSNP: rs774263990
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002527676 SCV000627058 likely benign Immunodeficiency 2024-01-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424090 SCV004140053 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing NFAT5: BS1

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