ClinVar Miner

Submissions for variant NM_001369369.1(FOXN1):c.1875C>A (p.Pro625=)

gnomAD frequency: 0.00005  dbSNP: rs375619239
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002173513 SCV002342188 likely benign T-cell immunodeficiency, congenital alopecia, and nail dystrophy 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704690 SCV005212377 likely benign not provided criteria provided, single submitter not provided

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