ClinVar Miner

Submissions for variant NM_001369369.1(FOXN1):c.1174C>T (p.Leu392=)

gnomAD frequency: 0.00001  dbSNP: rs1273671022
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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 RCV002124529 SCV002441806 likely benign T-cell immunodeficiency, congenital alopecia, and nail dystrophy 2023-11-17 criteria provided, single submitter clinical testing

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