ClinVar Miner

Submissions for variant NM_001369369.1(FOXN1):c.159C>T (p.Ser53=)

gnomAD frequency: 0.00005  dbSNP: rs368024968
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000378587 SCV000401468 uncertain significance T-cell immunodeficiency, congenital alopecia, and nail dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000378587 SCV002366989 likely benign T-cell immunodeficiency, congenital alopecia, and nail dystrophy 2024-01-24 criteria provided, single submitter clinical testing

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